INGEBI (INGEBI / CONICET), INGEBI
General information
INGEBI, INGEBI
INGEBI / CONICET
Vuelta de obligado 2490
Ciudad Autonoma de Buenos Aires
Buenos Aires
Argentina - C1428ADN
http://ingebi-conicet.gov.ar/
Organization ID: 506957
INGEBI / CONICET
Vuelta de obligado 2490
Ciudad Autonoma de Buenos Aires
Buenos Aires
Argentina - C1428ADN
http://ingebi-conicet.gov.ar/
Organization ID: 506957
Personnel
- Paula Buonfiglio, Informatics staff
Phone: 541147832871
Email: pbuonfiglio@dna.uba.ar - Viviana Dalamon, Principal Investigator
Phone: 541147832871
Email: vividalamon@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 78
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTG1 | 1 | Aug 18, 2021 |
| ADGRV1 | 2 | Jul 29, 2021 |
| C10orf105 | 1 | Jul 29, 2021 |
| CDH23 | 4 | Jul 29, 2021 |
| CDH23-AS1 | 1 | Jul 29, 2021 |
| COL4A3 | 2 | Jul 29, 2021 |
| COL4A5 | 3 | Jul 29, 2021 |
| CRYL1 | 2 | Sep 22, 2020 |
| EYA4 | 1 | Jul 29, 2021 |
| GJB2 | 47 | Dec 3, 2021 |
| GJB6 | 2 | Sep 22, 2020 |
| GSDME | 1 | Jul 29, 2021 |
| LARS2 | 2 | Jul 29, 2021 |
| LARS2-AS1 | 1 | Jul 29, 2021 |
| LOXHD1 | 1 | Jul 29, 2021 |
| MFF-DT | 2 | Jul 29, 2021 |
| MITF | 1 | Jul 29, 2021 |
| MYO6 | 1 | Jul 29, 2021 |
| MYO7A | 2 | Jul 29, 2021 |
| STRC | 1 | Oct 5, 2023 |
| TBCEL-TECTA | 1 | Jul 29, 2021 |
| TECTA | 1 | Jul 29, 2021 |
| TMPRSS3 | 2 | Jul 29, 2021 |
| USH2A | 2 | Jul 29, 2021 |
| WFS1 | 2 | Jul 29, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant Alport syndrome | 2 | Jul 29, 2021 |
| Hereditary palmoplantar keratoderma | 2 | Aug 28, 2020 |
| Nonsyndromic genetic hearing loss | 71 | Oct 5, 2023 |
| Usher syndrome type 1D | 2 | Jul 29, 2021 |
| Usher syndrome type 2C | 2 | Jul 29, 2021 |
| X-linked Alport syndrome | 1 | Jul 29, 2021 |