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: 561
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB7 | 1 | Sep 7, 2017 |
| ABCC9 | 1 | Feb 12, 2025 |
| ACSF3 | 1 | Jul 29, 2025 |
| ACTB | 2 | May 30, 2017 |
| ADCY5 | 1 | Feb 3, 2026 |
| ADNP | 2 | Jan 22, 2019 |
| AGA | 1 | Apr 21, 2026 |
| AHCY | 1 | Jun 11, 2025 |
| AHDC1 | 3 | Jun 25, 2018 |
| ALMS1 | 2 | May 30, 2017 |
| ALPL | 1 | Jan 22, 2019 |
| ANK3 | 1 | Feb 12, 2025 |
| ANKRD11 | 5 | Jun 25, 2018 |
| ANO4 | 1 | Feb 3, 2026 |
| AP1G1 | 1 | Feb 3, 2026 |
| AP4B1 | 1 | May 30, 2017 |
| AP4B1-AS1 | 1 | May 30, 2017 |
| APOB | 1 | Jun 25, 2018 |
| AR | 8 | Jun 11, 2025 |
| ARFGEF1 | 1 | Oct 2, 2024 |
| ARID1B | 8 | Feb 3, 2026 |
| ASH1L | 2 | Jan 22, 2019 |
| ASXL1 | 1 | Sep 7, 2017 |
| ASXL2 | 1 | Oct 29, 2025 |
| ATP1A1 | 1 | Jun 11, 2025 |
| ATP1A1-AS1 | 1 | Jun 11, 2025 |
| ATP2B2 | 1 | Feb 3, 2026 |
| ATXN7L3-AS1 | 1 | Oct 29, 2025 |
| AUTS2 | 2 | Jun 25, 2018 |
| BBS7 | 1 | Feb 3, 2026 |
| BCL11A | 1 | Feb 3, 2026 |
| BCL11B | 1 | Feb 3, 2026 |
| BCOR | 2 | Feb 3, 2026 |
| BPTF | 1 | Oct 29, 2025 |
| BRAF | 1 | Jan 22, 2019 |
| BRPF1 | 2 | Jan 22, 2019 |
| BTD | 2 | Oct 2, 2024 |
| C12orf57 | 1 | Jun 11, 2025 |
| C1QTNF5 | 2 | Sep 7, 2017 |
| CACNA1S | 2 | Oct 25, 2024 |
| CAMK2A | 1 | Oct 29, 2025 |
| CAPRIN1 | 1 | Oct 29, 2025 |
| CASK | 1 | Jun 25, 2018 |
| CBL | 1 | May 30, 2017 |
| CCDST | 2 | Feb 3, 2026 |
| CDK13 | 3 | Jul 29, 2025 |
| CDK8 | 2 | Jun 11, 2025 |
| CFTR | 21 | Apr 21, 2026 |
| CFTR-AS1 | 4 | Feb 2, 2024 |
| CFTR-AS2 | 4 | Oct 2, 2024 |
| CHAF1A | 1 | Feb 3, 2026 |
| CHD2 | 1 | May 30, 2017 |
| CHD7 | 1 | Oct 29, 2025 |
| CHD8 | 2 | Apr 21, 2026 |
| CHUK-DT | 1 | Sep 7, 2017 |
| CNKSR2 | 3 | Apr 21, 2026 |
| CNOT1 | 1 | Jul 29, 2025 |
| COL11A1 | 2 | Apr 21, 2026 |
| COL11A2 | 1 | Feb 3, 2026 |
| COL2A1 | 1 | Oct 29, 2025 |
| CREBBP | 2 | Feb 12, 2025 |
| CRELD1 | 1 | Feb 3, 2026 |
| CSDE1 | 1 | Jun 11, 2025 |
| CSNK2B | 1 | Jun 11, 2025 |
| CTCF | 1 | Jan 22, 2019 |
| CTNNB1 | 5 | Feb 12, 2025 |
| CWF19L1 | 2 | Sep 7, 2017 |
| CYFIP2 | 1 | Oct 29, 2025 |
| DDX3X | 4 | Jun 25, 2018 |
| DES | 1 | Feb 3, 2026 |
| DLL1 | 1 | Jul 29, 2025 |
| DMD | 2 | Oct 25, 2024 |
| DNMT3A | 3 | Apr 21, 2026 |
| DPAGT1 | 1 | Oct 2, 2024 |
| 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 |
| EMC10 | 1 | Oct 29, 2025 |
| EP300 | 6 | Oct 29, 2025 |
| FGF10 | 1 | Feb 3, 2026 |
| FGFR3 | 2 | Feb 2, 2024 |
| FLG | 2 | Feb 3, 2026 |
| FLNB | 1 | Jun 11, 2025 |
| FLT4 | 1 | Feb 12, 2025 |
| FOXG1 | 1 | May 30, 2017 |
| FOXP1 | 2 | Feb 12, 2025 |
| G6PD | 1 | Feb 12, 2025 |
| GABRB3 | 1 | Jun 25, 2018 |
| GATAD2B | 1 | May 30, 2017 |
| GCDH | 1 | Oct 2, 2024 |
| GH-LCR | 2 | Nov 23, 2022 |
| GJB2 | 19 | Nov 20, 2025 |
| GNAS | 1 | Jan 22, 2019 |
| GNB1 | 1 | Jun 25, 2018 |
| GRIN1 | 2 | Jun 25, 2018 |
| GRIN2B | 1 | Jun 11, 2025 |
| HBA2 | 2 | Jun 11, 2025 |
| HBB | 22 | Apr 21, 2026 |
| HDAC8 | 1 | Jul 29, 2025 |
| HNRNPH1 | 1 | Feb 3, 2026 |
| HNRNPU | 2 | Feb 3, 2026 |
| HPDL | 2 | Dec 2, 2021 |
| HUWE1 | 1 | Jul 29, 2025 |
| IRF6 | 1 | Feb 3, 2026 |
| ITPR1 | 1 | Jun 25, 2018 |
| JARID2 | 1 | Apr 21, 2026 |
| KAT6A | 2 | Apr 21, 2026 |
| KAT6B | 3 | Apr 21, 2026 |
| KCNA2 | 1 | Jun 25, 2018 |
| KCNB1 | 2 | Jun 25, 2018 |
| KCNC1 | 1 | Feb 3, 2026 |
| KCNJ8-AS1 | 1 | Feb 12, 2025 |
| KCNQ1 | 1 | Oct 29, 2025 |
| KCNQ2 | 2 | Sep 7, 2017 |
| KDM5B | 2 | Feb 3, 2026 |
| KDM6A | 1 | Jun 25, 2018 |
| KIF1A | 2 | Jun 25, 2018 |
| KMT2A | 1 | Jul 29, 2025 |
| KMT2B | 1 | Feb 12, 2025 |
| KMT2C | 2 | Feb 3, 2026 |
| KMT2D | 5 | Feb 3, 2026 |
| KMT5B | 1 | Jun 25, 2018 |
| KRAS | 2 | Apr 21, 2026 |
| LARP7 | 1 | Jun 11, 2025 |
| LDLR | 2 | Oct 29, 2025 |
| LINS1 | 1 | Oct 29, 2025 |
| LIX1L-AS1 | 1 | Feb 12, 2025 |
| LOC106099062 | 17 | Jun 11, 2025 |
| LOC106804612 | 2 | Jun 11, 2025 |
| LOC107133510 | 22 | Apr 21, 2026 |
| LOC110006319 | 5 | Apr 21, 2026 |
| LOC110121269 | 5 | Nov 23, 2022 |
| LOC111674472 | 3 | Oct 2, 2024 |
| LOC111674477 | 2 | Oct 25, 2024 |
| LOC112939935 | 1 | Feb 12, 2025 |
| LOC126805851 | 1 | Feb 12, 2025 |
| LOC126806590 | 1 | Jun 25, 2018 |
| LOC126806659 | 3 | Feb 12, 2025 |
| LOC126807125 | 1 | Jun 11, 2025 |
| LOC126860549 | 1 | Oct 29, 2025 |
| LOC126862264 | 5 | Nov 20, 2025 |
| LOC126862611 | 1 | Oct 29, 2025 |
| LOC128966623 | 1 | Feb 3, 2026 |
| LOC129935026 | 1 | May 30, 2017 |
| LOC130060418 | 1 | Oct 29, 2025 |
| LRP2 | 1 | Jun 25, 2018 |
| MAGEL2 | 1 | Feb 3, 2026 |
| MAP2K1 | 1 | Oct 2, 2024 |
| MAP3K7 | 1 | Oct 29, 2025 |
| MCEE | 1 | Jul 29, 2025 |
| MECP2 | 3 | Apr 11, 2017 |
| MED13 | 1 | Oct 2, 2024 |
| MED13L | 2 | Oct 2, 2024 |
| MEFV | 25 | Nov 20, 2025 |
| MEIS2 | 1 | Jun 25, 2018 |
| METTL23 | 2 | Jun 11, 2025 |
| MFRP | 2 | Sep 7, 2017 |
| MIR302CHG | 1 | Jun 11, 2025 |
| MMACHC | 1 | Jul 29, 2025 |
| MT-TL1 | 2 | Feb 3, 2026 |
| MVK | 6 | Nov 20, 2025 |
| MYH6 | 1 | Jun 11, 2025 |
| MYO15A | 2 | Oct 29, 2025 |
| MYT1L | 1 | Sep 7, 2017 |
| NALCN | 1 | May 30, 2017 |
| NANS | 2 | Apr 21, 2026 |
| NEDD4L | 2 | Jun 25, 2018 |
| NEXMIF | 1 | Jan 22, 2019 |
| NF1 | 1 | Sep 7, 2017 |
| NIPBL | 1 | Oct 2, 2024 |
| NKX2-1 | 1 | Jun 25, 2018 |
| NOTCH3 | 22 | Nov 20, 2025 |
| NPHP3 | 1 | Oct 29, 2025 |
| NPHP3-ACAD11 | 1 | Oct 29, 2025 |
| NR2F1 | 2 | Jun 25, 2018 |
| NR2F1-AS1 | 2 | Jun 25, 2018 |
| NR5A1 | 1 | Jun 11, 2025 |
| NRXN1 | 1 | Oct 29, 2025 |
| NSD2 | 1 | Feb 3, 2026 |
| OPA1 | 1 | Sep 7, 2017 |
| OPHN1 | 1 | Jul 29, 2025 |
| PACS2 | 1 | Feb 12, 2025 |
| PAFAH1B1 | 1 | Jun 25, 2018 |
| PAK3 | 1 | May 30, 2017 |
| PAX1 | 1 | Oct 29, 2025 |
| PHF6 | 1 | May 30, 2017 |
| PHIP | 2 | Jun 11, 2025 |
| PIGG | 3 | Feb 3, 2026 |
| PIGL | 1 | Jul 29, 2025 |
| PIK3CA | 2 | Jun 11, 2025 |
| PIK3CD | 1 | May 30, 2017 |
| PIK3R1 | 1 | Jan 22, 2019 |
| PMM2 | 1 | Jun 11, 2025 |
| PMP22 | 1 | Mar 23, 2020 |
| POGZ | 1 | Apr 21, 2026 |
| POLR2A | 1 | Apr 15, 2021 |
| PPM1D | 1 | Jan 22, 2019 |
| PPP1CB | 1 | Oct 2, 2024 |
| PPP2R5D | 1 | Oct 29, 2025 |
| PQBP1 | 2 | Feb 12, 2025 |
| PRDX1 | 1 | Jul 29, 2025 |
| PROC | 1 | Jun 11, 2025 |
| PTCHD1 | 1 | Apr 21, 2026 |
| PTEN | 3 | Jun 11, 2025 |
| PTPN11 | 4 | Feb 3, 2026 |
| PUF60 | 1 | Oct 29, 2025 |
| PURA | 1 | Sep 7, 2017 |
| PYCR1 | 2 | Sep 7, 2017 |
| QRICH1 | 1 | Feb 12, 2025 |
| RAB23 | 2 | Oct 2, 2024 |
| RAI1 | 2 | Jan 22, 2019 |
| RBM8A | 1 | Feb 12, 2025 |
| RNF213 | 1 | Jul 29, 2025 |
| RPL9 | 1 | Feb 12, 2025 |
| RPS6KA3 | 2 | Sep 7, 2017 |
| RTEL1 | 1 | Jun 11, 2025 |
| RTEL1-TNFRSF6B | 1 | Jun 11, 2025 |
| RUNX2 | 1 | Feb 3, 2026 |
| RYR1 | 2 | Oct 2, 2024 |
| RYR2 | 1 | Apr 21, 2026 |
| SACS | 1 | Jun 25, 2018 |
| SALL1 | 1 | Jul 29, 2025 |
| SCN2A | 1 | Oct 2, 2024 |
| SCN4A | 3 | Feb 2, 2024 |
| SCN5A | 50 | Apr 21, 2026 |
| SCN8A | 2 | Jun 25, 2018 |
| SETD5 | 6 | Jun 11, 2025 |
| SFTA3 | 1 | Jun 25, 2018 |
| SGSH | 1 | Apr 21, 2026 |
| SH2D1A | 1 | Jun 11, 2025 |
| SHANK1 | 1 | Jun 11, 2025 |
| SHANK3 | 1 | Jan 22, 2019 |
| SHH | 1 | Oct 2, 2024 |
| SIL1 | 1 | Oct 2, 2024 |
| SKIC3 | 2 | Jan 22, 2019 |
| SLC26A4 | 2 | Oct 29, 2025 |
| SLC2A1 | 1 | Jun 11, 2025 |
| SLC39A8 | 1 | Jun 11, 2025 |
| SLC9A6 | 1 | Apr 21, 2026 |
| SMARCB1 | 1 | May 30, 2017 |
| SMG8 | 1 | Jun 11, 2025 |
| SMO | 1 | Oct 29, 2025 |
| SOX11 | 1 | Jun 11, 2025 |
| SPAST | 2 | Jan 22, 2019 |
| SPECC1L | 2 | Feb 3, 2026 |
| SPECC1L-ADORA2A | 2 | Feb 3, 2026 |
| SPEN | 1 | Apr 21, 2026 |
| SPG7 | 2 | Jun 11, 2025 |
| SPTAN1 | 1 | Apr 21, 2026 |
| SRD5A2 | 3 | Oct 25, 2024 |
| SSR4 | 1 | Feb 3, 2026 |
| STAG1 | 1 | Jun 25, 2018 |
| STXBP1 | 2 | Jan 22, 2019 |
| SYNGAP1 | 3 | Jun 25, 2018 |
| SYNGAP1-AS1 | 2 | Jun 25, 2018 |
| TBCEL-TECTA | 1 | Feb 3, 2026 |
| TBCK | 2 | May 30, 2017 |
| TBL1XR1 | 2 | Feb 3, 2026 |
| TBL1XR1-AS1 | 1 | Jun 25, 2018 |
| TBR1 | 1 | May 30, 2017 |
| TCF4 | 2 | Apr 21, 2026 |
| TECTA | 1 | Feb 3, 2026 |
| TELO2 | 1 | Jun 11, 2025 |
| TET3 | 1 | Feb 3, 2026 |
| TLK2 | 2 | Feb 3, 2026 |
| TNFRSF13B | 1 | Oct 2, 2024 |
| TNFRSF1A | 9 | Apr 21, 2026 |
| TPM3 | 1 | Oct 29, 2025 |
| TRIM14 | 2 | Apr 21, 2026 |
| TRIO | 2 | Feb 3, 2026 |
| TTR | 18 | Apr 21, 2026 |
| TUBA1A | 1 | May 30, 2017 |
| TUBB4A | 1 | Jun 25, 2018 |
| UBE2A | 2 | Apr 21, 2026 |
| UBTF | 1 | Oct 29, 2025 |
| USP9X | 1 | Jan 9, 2025 |
| VPS13B | 2 | Jun 25, 2018 |
| WAC | 1 | May 30, 2017 |
| WDR26 | 2 | Feb 3, 2026 |
| WNT10A | 2 | Feb 3, 2026 |
| WRN | 2 | Apr 11, 2017 |
| XPO1 | 1 | Apr 21, 2026 |
| ZEB2 | 1 | Jun 25, 2018 |
| ZFHX3 | 1 | Apr 21, 2026 |
| ZFHX3-AS1 | 1 | Apr 21, 2026 |
| ZFHX4 | 1 | Oct 2, 2024 |
| 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 |
| Alpha trait thalassemia | 1 test |
| Alpha-thalassemia and related diseases | 1 test |
| Alpha-thalassemia-related diseases | 1 test |
| Amyloidosis, hereditary systemic 1 | 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 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 |
| Early-onset generalized limb-onset dystonia | 1 test |
| Familial Mediterranean fever | 1 test |
| Fragile X syndrome | 1 test |
| Fragile X-associated tremor/ataxia syndrome | 1 test |
| Friedreich ataxia 1 | 1 test |
| Hb SS disease | 1 test |
| Hemochromatosis type 1 | 1 test |
| Hemoglobin Bart hydrops syndrome | 1 test |
| Hemoglobin H disease | 1 test |
| Hemoglobin H disease, nondeletional | 1 test |
| Hereditary liability to pressure palsies | 1 test |
| Huntington disease | 1 test |
| Hyperimmunoglobulin D with periodic fever | 1 test |
| Hyperkalemic periodic paralysis | 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 |
| Neuromuscular disease caused by qualitative or quantitative defects of dystrophin | 1 test |
| Oculopharyngeal muscular dystrophy | 1 test |
| Prader-Willi syndrome | 1 test |
| Premature ovarian failure | 1 test |
| Sensorineural hearing loss disorder | 1 test |
| Sickle cell-hemoglobin C disease | 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 |
| Thalassemia | 1 test |
| Thanatophoric dysplasia type 1 | 1 test |
| Thanatophoric dysplasia, type 2 | 1 test |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |
| alpha Thalassemia | 1 test |
| beta Thalassemia | 1 test |