GenomeConnect - Simons Searchlight, GC_ SS
General information
GenomeConnect - Simons Searchlight, GC_ SS
New York
New York
United States - 10010
https://www.sfari.org/resource/simons-searchlight/
Organization ID: 507786
New York
New York
United States - 10010
https://www.sfari.org/resource/simons-searchlight/
Organization ID: 507786
Personnel
- SFARI Collections, Contact
Phone: N/A
Email: collections@sfari.org - Simons Searchlight Coordinator, Staff
Phone: N/A
Email: coordinator@simonssearchlight.org - Misia Kowanda, Staff
Phone: N/A
Email: mkowanda@simonsfoundation.org - Juliann Savatt, Staff
Phone: 570-522-6292
Email: datashare@clinicalgenome.org
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 381
Gene
Gene | Submissions | Last Updated |
---|---|---|
ADNP | 17 | Oct 29, 2020 |
ANKRD11 | 6 | Oct 29, 2020 |
ASXL3 | 38 | Oct 29, 2020 |
CHAMP1 | 13 | Oct 29, 2020 |
CHD2 | 5 | Oct 29, 2020 |
CHD8 | 5 | Oct 29, 2020 |
CSNK2A1 | 10 | Oct 29, 2020 |
CTNNB1 | 5 | Oct 29, 2020 |
DYRK1A | 21 | Oct 29, 2020 |
FOXP1 | 7 | Oct 29, 2020 |
GRIN2B | 34 | Oct 29, 2020 |
HIVEP2 | 12 | Oct 29, 2020 |
HNRNPH2 | 4 | Oct 29, 2020 |
LINC01054 | 1 | Oct 29, 2020 |
LOC126806658 | 2 | Oct 29, 2020 |
LOC126806659 | 1 | Oct 29, 2020 |
LOC126806714 | 2 | Oct 29, 2020 |
LOC126862230 | 1 | Oct 29, 2020 |
LOC130002651 | 2 | Oct 23, 2020 |
MEA1 | 13 | Oct 29, 2020 |
MED13L | 22 | Oct 29, 2020 |
PACS1 | 1 | Oct 29, 2020 |
PPP2R5D | 13 | Oct 29, 2020 |
PTCHD1 | 2 | Oct 29, 2020 |
RPL36A-HNRNPH2 | 4 | Oct 29, 2020 |
SCN2A | 85 | Oct 29, 2020 |
SETBP1 | 16 | Oct 29, 2020 |
STXBP1 | 44 | Oct 29, 2020 |
SYNGAP1 | 20 | Oct 29, 2020 |
SYNGAP1-AS1 | 13 | Oct 29, 2020 |