GenomeConnect - Simons Searchlight
General information
GenomeConnect - Simons Searchlight
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 - 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 |
| 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 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autism spectrum disorder | 5 | Oct 29, 2020 |
| Bainbridge-Ropers syndrome | 39 | Oct 29, 2020 |
| CHAMP1-related syndrome | 13 | Oct 29, 2020 |
| Complex neurodevelopmental disorder | 164 | Oct 29, 2020 |
| Helsmoortel-Van der Aa Syndrome | 17 | Oct 29, 2020 |
| Infantile epilepsy syndrome | 45 | Oct 29, 2020 |
| KBG syndrome | 6 | Oct 29, 2020 |
| Mental retardation and distinctive facial features with or without cardiac defects | 22 | Oct 29, 2020 |
| Mental retardation with language impairment and with or without autistic features | 7 | Oct 29, 2020 |
| Mental retardation, X-linked, syndromic, Bain type | 4 | Oct 29, 2020 |
| Mental retardation, autosomal dominant 19 | 5 | Oct 29, 2020 |
| Mental retardation, autosomal dominant 29 | 16 | Oct 29, 2020 |
| Mental retardation, autosomal dominant 35 | 13 | Oct 29, 2020 |
| Mental retardation, autosomal dominant 43 | 12 | Oct 29, 2020 |
| Non-syndromic X-linked intellectual disability | 2 | Oct 29, 2020 |
| Okur-chung neurodevelopmental syndrome | 10 | Oct 29, 2020 |
| Schuurs-hoeijmakers syndrome | 1 | Oct 29, 2020 |