Laboratory of Medical Genetics (UMR_S 1112) (INSERM/Strasbourg University), LGM
General information
Laboratory of Medical Genetics (UMR_S 1112), LGM
INSERM/Strasbourg University
1 rue Eugène Boeckel
Strasbourg
France - 67000
http://www.u1112.inserm.fr/
Organization ID: 506574
INSERM/Strasbourg University
1 rue Eugène Boeckel
Strasbourg
France - 67000
http://www.u1112.inserm.fr/
Organization ID: 506574
Personnel
- Jean Muller, Principal Investigator
Phone: +33 368 85 33 38
Email: jeanmuller@unistra.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 138
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALMS1 | 9 | Jan 17, 2025 |
| ARL6 | 1 | Mar 7, 2020 |
| ATP6V1B1 | 1 | Jul 19, 2019 |
| BBS1 | 14 | Aug 10, 2022 |
| BBS10 | 11 | Apr 15, 2020 |
| BBS12 | 9 | Aug 10, 2022 |
| BBS2 | 2 | Aug 10, 2022 |
| BBS4 | 6 | Aug 10, 2022 |
| BBS5 | 4 | Feb 22, 2023 |
| BBS7 | 1 | Oct 2, 2018 |
| BBS9 | 4 | Oct 2, 2018 |
| CACNG2-DT | 1 | Oct 3, 2018 |
| CDK10 | 14 | Sep 21, 2023 |
| CEMIP2 | 2 | Mar 6, 2020 |
| HORMAD1 | 1 | Oct 19, 2022 |
| IFT140 | 15 | Apr 6, 2018 |
| IFT27 | 2 | Oct 3, 2018 |
| IQCE | 3 | Jul 19, 2019 |
| KARS1 | 2 | Sep 11, 2018 |
| LINC02166 | 3 | Sep 21, 2023 |
| LOC105371046 | 6 | Apr 6, 2018 |
| LOC126862260 | 1 | Apr 6, 2018 |
| MKKS | 5 | Oct 2, 2018 |
| MYH10 | 4 | May 10, 2024 |
| PIK3C2A | 2 | Jan 22, 2025 |
| PRMT9 | 24 | Aug 12, 2022 |
| PSMC3 | 1 | Oct 30, 2018 |
| TULP1 | 1 | Jul 19, 2019 |
| ZDHHC24 | 8 | Aug 10, 2022 |