Department of Medical Genetics (College of Basic Medicine, Army Medical University)
General information
Personnel
- Hong Guo, Lab Director
Phone: +86 13452334616
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 25
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACO2 | 2 | Mar 15, 2024 |
| ATP2A2 | 1 | Jul 3, 2023 |
| BEST1 | 2 | Mar 13, 2024 |
| CERKL | 4 | Mar 15, 2024 |
| COL7A1 | 1 | Jul 3, 2023 |
| ERCC8 | 1 | Nov 16, 2018 |
| FBN2 | 1 | Mar 13, 2024 |
| FERMT1 | 1 | Jun 12, 2021 |
| IKBKG | 1 | Jul 3, 2023 |
| IMPG1 | 1 | Mar 13, 2024 |
| ITGA4 | 1 | Mar 14, 2024 |
| KCNV2 | 2 | Mar 15, 2024 |
| LOC130067544 | 1 | Mar 15, 2024 |
| MYO7A | 2 | Mar 14, 2024 |
| NF1 | 2 | Jul 3, 2023 |
| POLR3H | 1 | Mar 15, 2024 |
| PRPH2 | 1 | Mar 13, 2024 |
| SDHC | 1 | Sep 22, 2020 |
| TSC1 | 1 | Jul 3, 2023 |
| TYR | 1 | Jul 3, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive bestrophinopathy | 2 | Mar 13, 2024 |
| Cockayne syndrome type 1 | 1 | Nov 16, 2018 |
| Cone dystrophy with supernormal rod response | 2 | Mar 15, 2024 |
| Generalized dominant dystrophic epidermolysis bullosa | 1 | Jul 3, 2023 |
| Incontinentia pigmenti syndrome | 1 | Jul 3, 2023 |
| Keratosis follicularis | 1 | Jul 3, 2023 |
| Kindler syndrome | 1 | Jun 12, 2021 |
| Macular degeneration, early-onset | 1 | Mar 13, 2024 |
| Neurofibromatosis, type 1 | 2 | Jul 3, 2023 |
| Oculocutaneous albinism type 1B | 1 | Jul 3, 2023 |
| Optic atrophy 9 | 2 | Mar 15, 2024 |
| Paragangliomas 3 | 1 | Sep 22, 2020 |
| Retinitis pigmentosa 26 | 4 | Mar 15, 2024 |
| Tuberous sclerosis 1 | 1 | Jul 3, 2023 |
| Usher syndrome type 1 | 2 | Mar 14, 2024 |
| Vitelliform macular dystrophy 3 | 1 | Mar 13, 2024 |
| Vitelliform macular dystrophy 4 | 1 | Mar 13, 2024 |