Service de Biochimie Médicale et Biologie Moléculaire (CHU Clermont-Ferrand), CHU CF
General information
Service de Biochimie Médicale et Biologie Moléculaire, CHU CF
CHU Clermont-Ferrand
https://www.chu-clermontferrand.fr
Organization ID: 507283
CHU Clermont-Ferrand
https://www.chu-clermontferrand.fr
Organization ID: 507283
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 66
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DDX3X | 1 | Jan 8, 2021 |
| EXT1 | 7 | Jan 14, 2022 |
| EXT2 | 4 | Sep 14, 2021 |
| FRAS1 | 38 | Mar 9, 2020 |
| FREM2 | 5 | Mar 9, 2020 |
| GFAP | 1 | Jun 30, 2020 |
| GRIA1 | 1 | May 18, 2021 |
| GRIN2A | 1 | Jun 2, 2021 |
| IFIH1 | 1 | Feb 20, 2020 |
| IRF6 | 1 | May 12, 2020 |
| KMT2A | 1 | Sep 23, 2020 |
| LOC126807088 | 1 | Mar 9, 2020 |
| LOC126807089 | 1 | Mar 9, 2020 |
| PQBP1 | 1 | Oct 29, 2020 |
| RNASEH2B | 1 | May 6, 2020 |
| SETBP1 | 1 | May 28, 2020 |
| TRPS1 | 1 | Jul 14, 2020 |
| ZDHHC9 | 1 | Jan 14, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Aicardi-Goutieres syndrome 2 | 1 | May 6, 2020 |
| Aicardi-Goutieres syndrome 7 | 1 | Feb 20, 2020 |
| Alexander disease | 1 | Jun 30, 2020 |
| Exostoses, multiple, type 2 | 4 | Sep 14, 2021 |
| Fraser syndrome 1 | 38 | Mar 9, 2020 |
| Fraser syndrome 2 | 5 | Mar 9, 2020 |
| Intellectual disability | 2 | Jun 2, 2021 |
| Intellectual disability, X-linked 102 | 1 | Jan 8, 2021 |
| Intellectual disability, autosomal dominant 29 | 1 | May 28, 2020 |
| Intellectual disability, mild | 1 | Oct 29, 2020 |
| Language disorder | 1 | Sep 23, 2020 |
| Multiple congenital exostosis | 7 | Jan 14, 2022 |
| See cases | 1 | Jan 14, 2022 |
| Trichorhinophalangeal dysplasia type I | 1 | Jul 14, 2020 |
| Van der Woude syndrome 1 | 1 | May 12, 2020 |