Laboratory of Medical Genetics Unit (Bambino Gesù Children's Hospital), OPBG
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 125
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALG12 | 2 | Jul 23, 2019 |
| ALK | 2 | Jul 14, 2023 |
| APC | 5 | Oct 31, 2024 |
| ATM | 7 | Oct 31, 2024 |
| BRAF | 1 | Oct 30, 2024 |
| BRCA1 | 1 | Jul 14, 2023 |
| BRCA2 | 3 | Aug 6, 2024 |
| C11orf65 | 3 | Oct 30, 2024 |
| CASP10 | 1 | Jul 15, 2023 |
| CDH1 | 1 | Jul 14, 2023 |
| CDK4 | 1 | Jul 15, 2023 |
| CHEK2 | 1 | Jul 15, 2023 |
| CLCN3 | 1 | Jan 21, 2021 |
| COL4A5 | 1 | May 6, 2024 |
| DICER1 | 3 | Oct 31, 2024 |
| EGFR | 4 | Jul 17, 2023 |
| EIF4A2 | 1 | Feb 24, 2022 |
| EPCAM | 1 | Jul 15, 2023 |
| ERBB2 | 1 | Jul 14, 2023 |
| FANCA | 3 | Oct 29, 2024 |
| FANCC | 1 | Aug 6, 2024 |
| FGFR3 | 1 | Jul 15, 2023 |
| GAS8 | 1 | Nov 22, 2023 |
| IDH1 | 2 | Jul 15, 2023 |
| IFNAR2 | 2 | Aug 11, 2020 |
| IFNAR2-IL10RB | 2 | Aug 11, 2020 |
| IGF2 | 1 | Dec 29, 2023 |
| INS-IGF2 | 1 | Dec 29, 2023 |
| KDM4B | 1 | Oct 29, 2020 |
| KDM5B | 1 | Jul 15, 2023 |
| LOC126806433 | 1 | May 19, 2023 |
| LOC129935183 | 1 | May 19, 2023 |
| LOC130009266 | 1 | Oct 30, 2024 |
| LZTR1 | 4 | Oct 31, 2024 |
| MEN1 | 1 | Jul 15, 2023 |
| MLH3 | 1 | Oct 31, 2024 |
| MSH2 | 1 | Oct 30, 2024 |
| MSH3 | 3 | Oct 31, 2024 |
| MSH6 | 1 | Jul 14, 2023 |
| MUTYH | 3 | Nov 15, 2024 |
| NBN | 4 | Oct 30, 2024 |
| NF1 | 9 | Oct 30, 2024 |
| NOTCH3 | 1 | Jan 19, 2023 |
| NOTCH4 | 1 | Jan 25, 2023 |
| PALB2 | 3 | Oct 30, 2024 |
| PINK1 | 1 | Nov 27, 2023 |
| PINK1-AS | 1 | Nov 27, 2023 |
| PMS2 | 1 | Jul 14, 2023 |
| POC1A | 2 | Oct 8, 2020 |
| POLE | 6 | Oct 31, 2024 |
| POT1 | 2 | Jul 20, 2023 |
| PTCH2 | 1 | Jul 14, 2023 |
| RAD50 | 1 | Jul 14, 2023 |
| RAD51B | 1 | Jul 14, 2023 |
| RAD51D | 1 | Jul 14, 2023 |
| RAD51L3-RFFL | 1 | Jul 14, 2023 |
| RAD54L | 1 | Jul 15, 2023 |
| RET | 1 | Jul 14, 2023 |
| SAMD9 | 1 | Jul 15, 2023 |
| SDHA | 3 | Sep 20, 2024 |
| SDHC | 1 | Dec 3, 2023 |
| SLC30A10 | 1 | Jan 3, 2024 |
| SMARCA4 | 1 | Jul 14, 2023 |
| TNFAIP3 | 1 | Nov 5, 2021 |
| TP53 | 4 | Oct 30, 2024 |
| TSC2 | 1 | Jul 14, 2023 |
| TSPAN31 | 1 | Jul 15, 2023 |
| TTN | 10 | May 19, 2023 |
| TTN-AS1 | 5 | May 19, 2023 |
| VHL | 1 | Jul 15, 2023 |
| WAC | 1 | Sep 20, 2024 |