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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130047304 | 10096860 | 130016296 | 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 | 2017-08-26 | 1)authoriseddate | 2017-01-21 | 2017-08-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047305 | 10508913 | 130016297 | KRAS | 47 | 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 | 2019-11-26 | 1)authoriseddate | 2019-12-12 | 2019-11-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047306 | 11357270 | 130016298 | 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 | 2017-05-14 | 1)authoriseddate | 2017-06-12 | 2017-05-14 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130047307 | 11417175 | 130016299 | 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 | 2019-11-10 | 1)authoriseddate | 2019-10-15 | 2019-11-10 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047308 | 10133209 | 130016300 | 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 | 2016-04-23 | 3)receiveddate | 2016-02-29 | 2016-04-23 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047309 | 10433907 | 130016301 | 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 | 2016-11-24 | 3)receiveddate | 2016-11-28 | 2016-11-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047310 | 10967164 | 130016302 | KRAS | 47 | 2 | 2 | 2 | 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 | 2019-10-12 | 3)receiveddate | 2019-10-27 | 2019-10-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047311 | 11794475 | 130016303 | 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 | 2019-08-04 | 1)authoriseddate | 2019-07-24 | 2019-08-04 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047312 | 10237035 | 130016304 | 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 | 2017-12-23 | 1)authoriseddate | 2017-11-01 | 2017-12-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047313 | 10784573 | 130016305 | 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 | 2016-08-25 | 3)receiveddate | 2016-08-17 | 2016-08-25 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047314 | 10532755 | 130016306 | KRAS | 47 | 2 | 2 | 2 | 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.183A>T | c.183A>T | 2019-09-26 | 1)authoriseddate | 2019-09-25 | 2019-09-26 | p.(Gln61His) | 1 | p.(Gln61His) | Pyrosequencing | Birmingham (molecular lab) |
| 130047315 | 11972352 | 130016307 | 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 | 2019-11-28 | 3)receiveddate | 2019-11-16 | 2019-11-28 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047316 | 10664957 | 130016308 | 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 | 2017-12-26 | 3)receiveddate | 2017-12-13 | 2017-12-26 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047317 | 10325050 | 130016309 | 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 | 2017-08-19 | 1)authoriseddate | 2017-07-15 | 2017-08-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047318 | 10218572 | 130016310 | 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 | 2017-08-09 | 1)authoriseddate | 2017-08-27 | 2017-08-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047319 | 10355948 | 130016311 | 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 | 2019-10-01 | 1)authoriseddate | 2019-09-22 | 2019-10-01 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Cambridge (molecular lab) |
| 130047320 | 10640710 | 130016312 | 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 | 2019-10-18 | 1)authoriseddate | 2019-11-16 | 2019-10-18 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130047321 | 10532986 | 130016313 | 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 | 2017-04-29 | 1)authoriseddate | 2017-04-01 | 2017-04-29 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130047322 | 10496651 | 130016314 | KRAS | 47 | 2 | 2 | 2 | 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.38G>A | c.38G>A | 2019-08-28 | 3)receiveddate | 2019-09-25 | 2019-08-28 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047323 | 10160083 | 130016315 | 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 | 2018-07-21 | 1)authoriseddate | 2018-08-11 | 2018-07-21 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047324 | 11253089 | 130016316 | 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 | 2019-09-21 | 3)receiveddate | 2019-09-09 | 2019-09-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047325 | 11405352 | 130016317 | 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 | 2019-04-25 | 2)requesteddate | 2019-05-24 | 2019-04-25 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130047326 | 10352374 | 130016318 | 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 | 2017-07-23 | 3)receiveddate | 2017-06-25 | 2017-07-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047327 | 10471274 | 130016319 | 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 | 2017-05-06 | 1)authoriseddate | 2017-05-15 | 2017-05-06 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047328 | 11869024 | 130016320 | 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 | 2017-02-07 | 3)receiveddate | 2017-02-10 | 2017-02-07 | p.Gly12Val | 1 | p.Gly12Val | Pyrosequencing | Birmingham (molecular lab) |
| 130047329 | 11087059 | 130016321 | 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 | 2018-06-05 | 3)receiveddate | 2018-04-28 | 2018-06-05 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047330 | 10722465 | 130016322 | 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.38G>A | c.38G>A | 2019-03-13 | 3)receiveddate | 2019-01-20 | 2019-03-13 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Birmingham (molecular lab) |
| 130047331 | 10416554 | 130016323 | 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 | 2018-12-20 | 3)receiveddate | 2018-12-19 | 2018-12-20 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047332 | 10178383 | 130016324 | 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 | 2018-09-14 | 3)receiveddate | 2018-08-25 | 2018-09-14 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047333 | 11121471 | 130016325 | 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 | 2018-08-21 | 1)authoriseddate | 2018-07-31 | 2018-08-21 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047334 | 10258653 | 130016326 | 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 | 2019-02-23 | 3)receiveddate | 2019-02-16 | 2019-02-23 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047335 | 11854415 | 130016327 | 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 | 2016-05-23 | 3)receiveddate | 2016-06-01 | 2016-05-23 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130047336 | 11457534 | 130016328 | 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 | 2019-03-17 | 1)authoriseddate | 2019-02-03 | 2019-03-17 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 130047337 | 10655576 | 130016329 | 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 | 2017-10-18 | 3)receiveddate | 2017-07-05 | 2017-10-18 | p.Gly13Asp | 1 | p.Gly13Asp | Pyrosequencing | Cambridge (molecular lab) |
| 130047338 | 11140541 | 130016330 | KRAS | 47 | 1 | 3 | 1 | a:abnormal,a:abnormal,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.37G>T | c.37G>T | 2019-12-18 | 1)authoriseddate | 2019-07-25 | 2019-12-18 | p.Gln61Leu | 1 | p.Gln61Leu | Pyrosequencing | Birmingham (molecular lab) |
| 130047339 | 10356211 | 130016331 | 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 | 2019-09-12 | 1)authoriseddate | 2019-10-12 | 2019-09-12 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047340 | 10110105 | 130016332 | 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 | 2016-07-27 | 3)receiveddate | 2016-08-02 | 2016-07-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047341 | 11794764 | 130016333 | 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 | 2016-02-29 | 3)receiveddate | 2016-03-28 | 2016-02-29 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047342 | 10548030 | 130016334 | 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.436G>A | c.436G>A | 2019-03-28 | 1)authoriseddate | 2019-02-18 | 2019-03-28 | p.(Ala146Thr) | 1 | p.(Ala146Thr) | Pyrosequencing | Birmingham (molecular lab) |
| 130047343 | 11958633 | 130016335 | 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.436G>A | c.436G>A | 2018-10-20 | 1)authoriseddate | 2018-09-11 | 2018-10-20 | p.Ala146Thr | 1 | p.Ala146Thr | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130047344 | 11434260 | 130016336 | 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, | 2019-08-13 | 3)receiveddate | 2019-08-29 | 2019-12-12 | p.Gly13Cys | 1 | p.Gly13Cys | Pyrosequencing | Birmingham (molecular lab) |
| 130047346 | 11540315 | 130016339 | 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 | 2019-03-19 | 3)receiveddate | 2019-02-14 | 2019-03-19 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047347 | 11632844 | 130016340 | 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 | 2019-05-24 | 3)receiveddate | 2019-05-28 | 2019-05-24 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047348 | 11528631 | 130016341 | 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 | 2018-02-09 | 1)authoriseddate | 2018-02-17 | 2018-02-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047349 | 11090849 | 130016342 | 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 | 2017-05-11 | 3)receiveddate | 2017-04-07 | 2017-11-27 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047350 | 11224565 | 130016343 | 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 | 2019-07-29 | 3)receiveddate | 2019-05-01 | 2019-07-29 | p.(Gly12Val) | 1 | p.(Gly12Val) | Pyrosequencing | Birmingham (molecular lab) |
| 130047351 | 11765219 | 130016344 | 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.34_35delinsTA | c.34_35delinsTA | 2019-07-12 | 1)authoriseddate | 2019-07-27 | 2020-04-07 | p.(Ala18Asp) | 1 | p.(Ala18Asp) | Pyrosequencing | Birmingham (molecular lab) |
| 130047352 | 10489207 | 130016345 | 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 | 2018-10-09 | 1)authoriseddate | 2018-11-04 | 2018-10-09 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047353 | 11952895 | 130016346 | 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 | 2019-04-07 | 3)receiveddate | 2019-04-13 | 2019-04-07 | null | 0 | null | Pyrosequencing | Birmingham (molecular lab) |
| 130047354 | 11556271 | 130016347 | 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 | 2019-03-07 | 3)receiveddate | 2019-03-18 | 2019-03-07 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Pyrosequencing | Birmingham (molecular lab) |