Genomics And Bioinformatics Analysis Resource (Columbia University)
General information
Genomics And Bioinformatics Analysis Resource
Columbia University
New York
New York
United States - 10032
https://www.igm.columbia.edu/services/genomic-bioinformatics-analysis-resource-genbar
Organization ID: 509221
Columbia University
New York
New York
United States - 10032
https://www.igm.columbia.edu/services/genomic-bioinformatics-analysis-resource-genbar
Organization ID: 509221
Personnel
- Patrick Shea, Variant scientist/curator
Phone: 4126575242
Email: patrick.shea@columbia.edu
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 90
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCB11 | 5 | Aug 9, 2023 |
ABCB4 | 2 | Aug 9, 2023 |
ACVRL1 | 1 | Aug 9, 2023 |
AGXT | 1 | Aug 9, 2023 |
APC | 2 | Aug 9, 2023 |
ATP7B | 5 | Aug 9, 2023 |
ATP8B1 | 1 | Aug 9, 2023 |
CFTR | 4 | Aug 9, 2023 |
CFTR-AS1 | 1 | Aug 9, 2023 |
ENG | 1 | Aug 9, 2023 |
GANAB | 3 | Aug 9, 2023 |
GNB1 | 9 | Mar 13, 2016 |
HBB | 2 | Aug 9, 2023 |
HFE | 3 | Aug 9, 2023 |
HFE-AS1 | 1 | Aug 9, 2023 |
HMBS | 1 | Aug 9, 2023 |
HNF1A | 5 | Aug 9, 2023 |
HNF1B | 1 | Aug 9, 2023 |
HNF4A | 2 | Aug 9, 2023 |
HPS1 | 1 | Aug 9, 2023 |
JAG1 | 5 | Aug 9, 2023 |
KIF1A | 2 | Jul 10, 2017 |
LOC106099062 | 2 | Aug 9, 2023 |
LOC107133510 | 2 | Aug 9, 2023 |
LOC126861110 | 1 | Aug 9, 2023 |
LOC126862264 | 1 | Aug 9, 2023 |
LOC126862549 | 1 | Aug 9, 2023 |
LOC129930668 | 1 | Aug 9, 2023 |
MEFV | 2 | Aug 9, 2023 |
MYBPC1 | 1 | Mar 26, 2019 |
NOTCH1 | 1 | Aug 9, 2023 |
PGM1 | 2 | Aug 9, 2023 |
PHKA2 | 2 | Aug 9, 2023 |
PKD1 | 5 | Aug 9, 2023 |
PKD1-AS1 | 1 | Aug 9, 2023 |
PKHD1 | 4 | Aug 9, 2023 |
PRKCSH | 3 | Aug 9, 2023 |
SEC63 | 4 | Aug 9, 2023 |
SERPINA1 | 1 | Aug 9, 2023 |
SETBP1 | 1 | Feb 27, 2020 |
TALDO1 | 1 | Aug 9, 2023 |
TNFRSF1A | 1 | Aug 9, 2023 |
TSC1 | 1 | Aug 9, 2023 |
TTC21B | 2 | Aug 9, 2023 |
TTC21B-AS1 | 1 | Aug 9, 2023 |
UROD | 1 | Aug 9, 2023 |
WDR19 | 2 | Aug 9, 2023 |