V2 av_gene
255,731 rows · 29 columns
| GENEID | TUMOURID | PATIENTID | GENE_DESC | GENE | COUNT_TESTS | COUNT_RESULTS | COUNT_DATE | ALL_TESTSTATUSES | OVERALL_TS | NO_OF_AB_GATS | DNASEQ_GAT | METHYL_GAT | EXP_GAT | COPYNO_GAT | FUS_TRANS_GAT | ABNORMAL_GAT | NO_OF_SEQ_VARS | ALL_SEQ_VARS | SEQ_VAR | DATE_OVERALL_TS | BEST_DATE_SOURCE_OVERALL_TS | MIN_DATE | MAX_DATE | ALL_PRO_IMPS | NO_OF_PRO_IMPS | PRO_IMP | METHODS | LAB_NAME |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 200009880 | 10484744 | 200004493 | BRAF | 6 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-04-12 | 1)authoriseddate | 2017-04-01 | 2017-04-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130117081 | 10259590 | 130005712 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2017-08-29 | 1)authoriseddate | 2017-09-24 | 2017-08-29 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130148775 | 11990661 | 130022687 | TP53 | 79 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2018-10-28 | null | 2018-11-10 | 2018-10-28 | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 130148784 | 11285016 | 130022722 | TP53 | 79 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.916C>T | c.916C>T | 2017-05-01 | 1)authoriseddate | null | 2017-05-01 | p.(Gly245Ser) | 1 | p.(Gly245Ser) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130148805 | 11110456 | 130022813 | TP53 | 79 | 1 | 2 | 1 | a:abnormal,a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.733G>A | c.733G>A | 2019-03-25 | 1)authoriseddate | 2018-11-01 | null | p.(Pro153AlafsTer28) | 1 | p.(Pro153AlafsTer28) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 220008443 | 11023779 | 220001969 | TERT | 77 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.-124C>T | c.-124C>T | 2019-11-17 | 1)authoriseddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 130148821 | 10964898 | 130022874 | TP53 | 79 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.683_686del | c.683_686del | 2018-07-09 | 1)authoriseddate | 2018-03-04 | 2018-07-09 | p.(Arg213Ter) | 1 | p.(Arg213Ter) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117091 | 10074835 | 130005728 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>C | c.35G>C | 2018-04-16 | 1)authoriseddate | 2018-04-06 | 2018-04-16 | p.(Gly12Ala) | 1 | p.(Gly12Ala) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117095 | 11283406 | 130005733 | KRAS | 47 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-13 | 1)authoriseddate | 2019-02-15 | 2019-02-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130148827 | 10536301 | 130022895 | TP53 | 79 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-02-27 | 1)authoriseddate | 2018-10-07 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130019226 | 10627312 | 130019226 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-27 | 2)requesteddate | 2019-03-20 | 2019-03-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130117100 | 10032654 | 130005739 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-31 | 1)authoriseddate | 2019-04-05 | 2019-03-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130019225 | 10349385 | 130019225 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-27 | 2)requesteddate | 2019-06-04 | 2019-08-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130149121 | 11808155 | 130024273 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-09-04 | null | 2019-09-10 | null | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 130117101 | 11536224 | 130005742 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-11-28 | 1)authoriseddate | 2018-10-17 | 2018-11-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130019222 | 11262248 | 130019222 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-01-29 | 1)authoriseddate | 2017-01-31 | 2017-01-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130019209 | 10083201 | 130019209 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-11-28 | 2)requesteddate | 2017-12-25 | 2017-11-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130019207 | 11483858 | 130019207 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | null | 2)requesteddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130019204 | 11788530 | 130019204 | NRAS | 56 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2017-10-03 | 1)authoriseddate | 2017-10-05 | 2017-10-03 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130117106 | 10010410 | 130005748 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2019-10-27 | 1)authoriseddate | 2019-11-18 | 2019-10-27 | p.G12X,p.Gly12Asp | 2 | multiple | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130019196 | 11525715 | 130019196 | NRAS | 56 | 1 | 1 | 1 | a:abnormal | a:abnormal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 1 | c.181C>A | c.181C>A | 2019-07-14 | 1)authoriseddate | 2019-07-04 | 2019-07-14 | p.(Gln61Leu) | 1 | p.(Gln61Leu) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130019187 | 10914300 | 130019187 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-12-19 | 3)receiveddate | 2019-12-18 | 2019-12-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 130117115 | 11274095 | 130005761 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-04-11 | 1)authoriseddate | 2018-03-08 | 2018-04-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Nottingham (molecular lab) |
| 130117117 | 10405078 | 130005763 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2019-03-24 | 1)authoriseddate | 2019-04-01 | 2019-03-24 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130149723 | 11855594 | 130027576 | SMAD4 | 72 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-10-13 | 1)authoriseddate | 2016-11-03 | 2016-10-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117129 | 11914413 | 130005789 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2018-12-10 | 1)authoriseddate | 2019-01-05 | 2018-12-10 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117133 | 10645914 | 130005797 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-05 | 3)receiveddate | 2019-05-05 | 2019-05-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 200009919 | 11804500 | 200004535 | BRAF | 6 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-08-20 | 1)authoriseddate | 2019-09-07 | 2019-08-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130117140 | 11066404 | 130005813 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-10 | 1)authoriseddate | 2019-01-03 | 2019-01-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117142 | 10103185 | 130005818 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2019-03-30 | 1)authoriseddate | 2019-04-15 | 2019-03-30 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117143 | 11961223 | 130005820 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-26 | 1)authoriseddate | 2019-11-06 | 2019-11-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130149738 | 10746132 | 130027669 | SMAD4 | 72 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-12 | 1)authoriseddate | 2019-04-22 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130149741 | 11557163 | 130027681 | POLD1 | 3408 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-02-09 | 1)authoriseddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 200009931 | 10408629 | 200004547 | BRAF | 6 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-24 | 1)authoriseddate | 2019-06-08 | 2019-05-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130149743 | 10026763 | 130027684 | SMAD4 | 72 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-25 | 1)authoriseddate | null | 2019-09-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130149745 | 11728959 | 130027703 | MUTYH | 2850 | 2 | 2 | 2 | e:failed,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-10-27 | 1)authoriseddate | 2019-11-17 | 2019-10-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130149751 | 10495557 | 130027723 | POLD1 | 3408 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-10-04 | 1)authoriseddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117155 | 11873283 | 130005840 | KRAS | 47 | 1 | 2 | 1 | a:abnormal,a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2018-02-03 | 1)authoriseddate | 2018-02-01 | 2018-02-03 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 200009936 | 11881069 | 200004552 | BRAF | 6 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-03-21 | 1)authoriseddate | 2017-04-07 | 2017-03-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130149757 | 10743475 | 130027740 | PTEN | 62 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-07 | 1)authoriseddate | 2019-04-28 | 2019-07-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130149758 | 11847737 | 130027741 | PTEN | 62 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-02-27 | 1)authoriseddate | 2018-03-11 | 2018-02-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130149760 | 11729982 | 130027745 | POLD1 | 3408 | 1 | 1 | 1 | null | g:unknown/null | 1 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | ab:abnormal_copy_no_gain | n:not_applicable_null | copy_no_gain | 0 | null | null | 2018-05-31 | 1)authoriseddate | 2018-05-27 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 200009945 | 10036060 | 200004561 | BRAF | 6 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-31 | 1)authoriseddate | 2019-06-29 | 2019-07-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130149764 | 11659534 | 130027761 | APC | 358 | 1 | 1 | 1 | null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-10-31 | 1)authoriseddate | 2016-01-29 | 2018-10-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117167 | 11234881 | 130005860 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2018-06-28 | 1)authoriseddate | 2018-06-21 | 2018-06-28 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130019143 | 10021465 | 130019143 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-12-09 | 2)requesteddate | 2018-12-09 | 2018-12-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130117173 | 10913314 | 130005870 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2019-05-26 | 1)authoriseddate | 2019-06-06 | 2019-05-26 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130149767 | 11420367 | 130027802 | CDH1 | 794 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-30 | 1)authoriseddate | 2019-09-17 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117176 | 11464450 | 130005873 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2019-05-30 | 1)authoriseddate | 2019-06-19 | 2019-05-30 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117179 | 11819063 | 130005879 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.182A>T | c.182A>T | 2016-02-07 | 1)authoriseddate | 2016-02-24 | 2016-02-07 | p.Gly13Cys | 1 | p.Gly13Cys | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |