Medical Genetics Center (Maternal and Child Health Hospital of Hubei Province)
General information
Personnel
- Yayun Qin, Variant scientist/curator
Phone: +8613296624455
Email: qingyy0918@hbfy.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 110
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADNP | 1 | Sep 13, 2025 |
| AFF2 | 1 | Sep 13, 2025 |
| ANKRD11 | 9 | Aug 25, 2026 |
| ARID1B | 1 | Apr 1, 2023 |
| ASH1L | 1 | Sep 13, 2025 |
| ASPM | 1 | Sep 13, 2025 |
| ASXL3 | 1 | Sep 13, 2025 |
| AUTS2 | 1 | Sep 13, 2025 |
| BBS2 | 2 | Apr 18, 2024 |
| BBS4 | 1 | May 14, 2026 |
| CEP290 | 2 | Apr 18, 2024 |
| CHD7 | 2 | Sep 13, 2025 |
| CIC | 1 | Sep 13, 2025 |
| CLTC | 1 | Sep 13, 2025 |
| CNOT3 | 1 | Sep 13, 2025 |
| COL11A2 | 1 | Apr 1, 2023 |
| COL1A1 | 4 | Apr 1, 2023 |
| CPLANE1 | 2 | Apr 1, 2023 |
| DUOX2 | 2 | Sep 13, 2025 |
| EBP | 1 | Apr 1, 2023 |
| EHMT1 | 1 | Sep 13, 2025 |
| EP300 | 1 | Apr 1, 2023 |
| EVC2 | 2 | May 14, 2026 |
| EYA1 | 1 | Apr 1, 2023 |
| FGFR1 | 1 | Apr 1, 2023 |
| FGFR3 | 4 | Apr 1, 2023 |
| FOXG1 | 1 | Sep 13, 2025 |
| GLI3 | 3 | May 14, 2026 |
| GREB1L | 1 | Apr 1, 2023 |
| HDAC8 | 1 | Nov 4, 2025 |
| HNF1B | 1 | Apr 1, 2023 |
| INVS | 2 | Apr 1, 2023 |
| KDM5B | 1 | Sep 13, 2025 |
| KIAA0825 | 2 | May 14, 2026 |
| KMT2A | 1 | Sep 13, 2025 |
| KMT2D | 1 | Apr 18, 2024 |
| L1CAM | 1 | Apr 1, 2023 |
| LBR | 2 | Apr 1, 2023 |
| LOC126806961 | 1 | May 14, 2026 |
| LOC126860403 | 1 | Apr 18, 2024 |
| MED13L | 1 | Sep 13, 2025 |
| MKS1 | 2 | Apr 1, 2023 |
| MMP9 | 2 | Apr 1, 2023 |
| MYCN | 2 | Nov 4, 2025 |
| MYH3 | 1 | Apr 1, 2023 |
| NEK1 | 4 | May 14, 2026 |
| NFIX | 1 | Sep 13, 2025 |
| NLGN3 | 1 | Sep 13, 2025 |
| NPHP3 | 2 | Apr 18, 2024 |
| NPHP3-ACAD11 | 2 | Apr 18, 2024 |
| PDHA1 | 1 | Apr 1, 2023 |
| PHF21A | 1 | Sep 13, 2025 |
| PKD1 | 2 | Apr 18, 2024 |
| POGZ | 1 | Sep 13, 2025 |
| RAF1 | 1 | Apr 1, 2023 |
| RPS19 | 1 | Apr 1, 2023 |
| SATB2 | 1 | Sep 13, 2025 |
| SCN2A | 1 | Sep 13, 2025 |
| SETD1B | 1 | Sep 13, 2025 |
| SMPD4 | 1 | Apr 1, 2023 |
| SNHG14 | 1 | Sep 13, 2025 |
| SOS1 | 2 | Sep 13, 2025 |
| SYNGAP1 | 1 | Sep 13, 2025 |
| TBX3 | 1 | May 14, 2026 |
| TCF20 | 1 | Sep 13, 2025 |
| TCF4 | 1 | Sep 13, 2025 |
| TMEM67 | 2 | Apr 18, 2024 |
| TRIP12 | 2 | Sep 13, 2025 |
| TSC2 | 2 | Apr 1, 2023 |
| TTC21B | 2 | Apr 1, 2023 |
| TTC8 | 2 | Apr 18, 2024 |
| TTN | 2 | Apr 1, 2023 |
| TTN-AS1 | 1 | Apr 1, 2023 |
| UBE3A | 1 | Sep 13, 2025 |
| ZBTB18 | 1 | Sep 13, 2025 |