Molecular Genetics Laboratory (BC Children's and BC Women's Hospitals)
General information
Molecular Genetics Laboratory
BC Children's and BC Women's Hospitals
2J40-4500 Oak Street
Vancouver
British Columbia
Canada - V6H 3N1
http://www.genebc.ca/
Organization ID: 249401
BC Children's and BC Women's Hospitals
2J40-4500 Oak Street
Vancouver
British Columbia
Canada - V6H 3N1
http://www.genebc.ca/
Organization ID: 249401
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 204
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCB7 | 1 | Sep 7, 2017 |
ACTB | 2 | May 30, 2017 |
ADNP | 2 | Jan 22, 2019 |
AHDC1 | 3 | Jun 25, 2018 |
ALMS1 | 2 | May 30, 2017 |
ALPL | 1 | Jan 22, 2019 |
ANKRD11 | 5 | Jun 25, 2018 |
AP4B1 | 1 | May 30, 2017 |
AP4B1-AS1 | 1 | May 30, 2017 |
APOB | 1 | Jun 25, 2018 |
ARID1B | 6 | Jan 22, 2019 |
ASH1L | 2 | Jan 22, 2019 |
ASXL1 | 1 | Sep 7, 2017 |
AUTS2 | 2 | Jun 25, 2018 |
BCOR | 1 | May 30, 2017 |
BRAF | 1 | Jan 22, 2019 |
BRPF1 | 2 | Jan 22, 2019 |
C1QTNF5 | 2 | Sep 7, 2017 |
CACNA1S | 1 | Mar 23, 2020 |
CASK | 1 | Jun 25, 2018 |
CBL | 1 | May 30, 2017 |
CDK13 | 2 | Jan 22, 2019 |
CFTR | 7 | Mar 23, 2020 |
CFTR-AS1 | 1 | Mar 23, 2020 |
CHD2 | 1 | May 30, 2017 |
CHD8 | 1 | May 30, 2017 |
CNKSR2 | 2 | Jun 25, 2018 |
CREBBP | 1 | Jul 21, 2017 |
CTCF | 1 | Jan 22, 2019 |
CTNNB1 | 3 | Jun 25, 2018 |
CWF19L1 | 2 | Sep 7, 2017 |
DDX3X | 4 | Jun 25, 2018 |
DNMT3A | 2 | Jun 25, 2018 |
DUSP29 | 1 | Sep 7, 2017 |
DYRK1A | 2 | Jun 25, 2018 |
EBF3 | 2 | Sep 7, 2017 |
EDA | 1 | Jan 22, 2019 |
EHMT1 | 1 | May 30, 2017 |
EP300 | 5 | Jun 25, 2018 |
FGFR3 | 1 | Mar 23, 2020 |
FLG | 1 | Jun 25, 2018 |
FOXG1 | 1 | May 30, 2017 |
FOXP1 | 1 | May 30, 2017 |
GABRB3 | 1 | Jun 25, 2018 |
GATAD2B | 1 | May 30, 2017 |
GJB2 | 4 | Mar 23, 2020 |
GNAS | 1 | Jan 22, 2019 |
GNB1 | 1 | Jun 25, 2018 |
GRIN1 | 2 | Jun 25, 2018 |
HNRNPU | 1 | May 30, 2017 |
ITPR1 | 1 | Jun 25, 2018 |
KAT6A | 1 | Jun 25, 2018 |
KAT6B | 2 | Sep 7, 2017 |
KCNA2 | 1 | Jun 25, 2018 |
KCNB1 | 2 | Jun 25, 2018 |
KCNQ2 | 2 | Sep 7, 2017 |
KDM6A | 1 | Jun 25, 2018 |
KIF1A | 2 | Jun 25, 2018 |
KMT2D | 4 | Jun 25, 2018 |
KMT5B | 1 | Jun 25, 2018 |
LDLR | 1 | Sep 7, 2017 |
LOC110121269 | 2 | Mar 23, 2020 |
LOC111674472 | 1 | Mar 23, 2020 |
LOC111674477 | 1 | Mar 23, 2020 |
LRP2 | 1 | Jun 25, 2018 |
MECP2 | 3 | Apr 11, 2017 |
MEFV | 3 | Mar 23, 2020 |
MEIS2 | 1 | Jun 25, 2018 |
MFRP | 2 | Sep 7, 2017 |
MYT1L | 1 | Sep 7, 2017 |
NALCN | 1 | May 30, 2017 |
NEDD4L | 2 | Jun 25, 2018 |
NEXMIF | 1 | Jan 22, 2019 |
NF1 | 1 | Sep 7, 2017 |
NKX2-1 | 1 | Jun 25, 2018 |
NOTCH3 | 2 | Mar 23, 2020 |
NR2F1 | 2 | Jun 25, 2018 |
OPA1 | 1 | Sep 7, 2017 |
PAFAH1B1 | 1 | Jun 25, 2018 |
PAK3 | 1 | May 30, 2017 |
PHF6 | 1 | May 30, 2017 |
PIK3CA | 1 | Jan 22, 2019 |
PIK3CD | 1 | May 30, 2017 |
PIK3R1 | 1 | Jan 22, 2019 |
PMP22 | 1 | Mar 23, 2020 |
PPM1D | 1 | Jan 22, 2019 |
PQBP1 | 1 | May 30, 2017 |
PTEN | 2 | Jan 22, 2019 |
PTPN11 | 2 | Jun 25, 2018 |
PURA | 1 | Sep 7, 2017 |
PYCR1 | 2 | Sep 7, 2017 |
RAI1 | 2 | Jan 22, 2019 |
RPS6KA3 | 2 | Sep 7, 2017 |
RYR1 | 1 | Jun 25, 2018 |
SACS | 1 | Jun 25, 2018 |
SCN5A | 13 | Mar 23, 2020 |
SCN8A | 2 | Jun 25, 2018 |
SETD5 | 3 | Sep 7, 2017 |
SFTA3 | 1 | Jun 25, 2018 |
SHANK3 | 1 | Jan 22, 2019 |
SMARCB1 | 1 | May 30, 2017 |
SPAST | 2 | Jan 22, 2019 |
SRD5A2 | 1 | Mar 23, 2020 |
STAG1 | 1 | Jun 25, 2018 |
STXBP1 | 2 | Jan 22, 2019 |
SYNGAP1 | 3 | Jun 25, 2018 |
TBCK | 2 | May 30, 2017 |
TBL1XR1 | 1 | Jun 25, 2018 |
TBR1 | 1 | May 30, 2017 |
TCF4 | 1 | Jan 22, 2019 |
TRIO | 1 | Jun 25, 2018 |
TTC37 | 2 | Jan 22, 2019 |
TTR | 3 | Mar 23, 2020 |
TUBA1A | 1 | May 30, 2017 |
TUBB4A | 1 | Jun 25, 2018 |
UBE2A | 1 | Jun 25, 2018 |
USP9X | 1 | May 30, 2017 |
VPS13B | 2 | Jun 25, 2018 |
WAC | 1 | May 30, 2017 |
WDR26 | 1 | Sep 7, 2017 |
WNT10A | 1 | Jan 22, 2019 |
WRN | 2 | Apr 11, 2017 |
ZEB2 | 1 | Jun 25, 2018 |
ZFYVE26 | 2 | Sep 7, 2017 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 test |
Achondroplasia | 1 test |
Amyloidogenic transthyretin amyloidosis | 1 test |
Androgen resistance syndrome | 1 test |
Angelman syndrome | 1 test |
Ashkenazi Jewish disorders | 1 test |
Azorean disease | 1 test |
Becker muscular dystrophy | 1 test |
Brugada syndrome | 1 test |
Brugada syndrome 1 | 1 test |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 1 test |
Charcot-Marie-Tooth disease, type I | 1 test |
Charcot-Marie-Tooth disease, type IA | 1 test |
Cystic fibrosis | 1 test |
Dilated cardiomyopathy 3B | 1 test |
Duchenne muscular dystrophy | 1 test |
Dystonia 1 | 1 test |
Dystrophinopathies | 1 test |
Familial Mediterranean fever | 1 test |
Familial hyperkalemic periodic paralysis | 1 test |
Fragile X syndrome | 1 test |
Fragile X tremor/ataxia syndrome | 1 test |
Friedreich ataxia 1 | 1 test |
Hemochromatosis type 1 | 1 test |
Hereditary liability to pressure palsies | 1 test |
Huntington disease | 1 test |
Hyperimmunoglobulin D with periodic fever | 1 test |
Hypochondroplasia | 1 test |
Hypokalemic periodic paralysis | 1 test |
Kennedy disease | 1 test |
Muenke syndrome | 1 test |
Myotonic dystrophy | 1 test |
Myotonic dystrophy type 2 | 1 test |
Oculopharyngeal muscular dystrophy | 1 test |
Prader-Willi syndrome | 1 test |
Premature ovarian failure | 1 test |
Sensorineural hearing loss | 1 test |
Spinal muscular atrophy | 1 test |
Spinocerebellar ataxia 7 | 1 test |
Spinocerebellar ataxia type 1 | 1 test |
Spinocerebellar ataxia type 2 | 1 test |
Spinocerebellar ataxia type 6 | 1 test |
TNF receptor-associated periodic fever syndrome (TRAPS) | 1 test |
Thanatophoric dysplasia type 1 | 1 test |
Thanatophoric dysplasia, type 2 | 1 test |
X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |