Center of Medical Genetics and Primary Health Care
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 125
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATM | 6 | Dec 9, 2020 |
| ATR | 3 | Dec 6, 2020 |
| AXIN2 | 2 | Dec 6, 2020 |
| BARD1 | 1 | Dec 22, 2020 |
| BRCA1 | 18 | Dec 10, 2020 |
| BRCA2 | 20 | Dec 22, 2020 |
| BRIP1 | 2 | Dec 9, 2020 |
| C11orf65 | 2 | Dec 9, 2020 |
| CASR | 1 | Dec 6, 2020 |
| CHEK2 | 7 | Dec 9, 2020 |
| DICER1 | 1 | Dec 9, 2020 |
| EXT1 | 1 | Dec 6, 2020 |
| FANCA | 1 | Dec 6, 2020 |
| FANCB | 2 | Dec 8, 2020 |
| FANCD2 | 1 | Apr 21, 2020 |
| FANCE | 1 | Dec 8, 2020 |
| FANCF | 1 | Dec 9, 2020 |
| FANCI | 1 | Apr 21, 2020 |
| FH | 1 | Dec 6, 2020 |
| KIF1B | 2 | Dec 10, 2020 |
| LOC106736614 | 1 | Dec 6, 2020 |
| LOC107303338 | 1 | Apr 21, 2020 |
| LOC111589215 | 1 | May 2, 2020 |
| LOC126862571 | 3 | Dec 5, 2020 |
| MC1R | 3 | Dec 22, 2020 |
| MLH1 | 3 | Dec 6, 2020 |
| MLH3 | 1 | Dec 10, 2020 |
| MSH2 | 1 | Dec 6, 2020 |
| MSH6 | 2 | Dec 9, 2020 |
| MUTYH | 3 | Dec 8, 2020 |
| NBN | 1 | Apr 25, 2020 |
| NF2 | 1 | Dec 6, 2020 |
| PALB2 | 7 | Dec 6, 2020 |
| POLD1 | 1 | Dec 6, 2020 |
| POLE | 1 | Dec 5, 2020 |
| POLH | 1 | Dec 9, 2020 |
| POLR1C | 1 | Dec 9, 2020 |
| PRKDC | 1 | Dec 8, 2020 |
| RECQL4 | 2 | Dec 8, 2020 |
| RET | 3 | Dec 9, 2020 |
| SDHB | 2 | Dec 6, 2020 |
| SDHC | 1 | Dec 6, 2020 |
| SLX4 | 5 | Dec 6, 2020 |
| SMARCA4 | 2 | Dec 6, 2020 |
| STK11 | 1 | Dec 9, 2020 |
| TERT | 1 | Dec 6, 2020 |
| TINF2 | 1 | Dec 9, 2020 |
| TSC1 | 2 | Dec 9, 2020 |
| TSHR | 1 | Apr 21, 2020 |
| TYR | 1 | Dec 6, 2020 |
| WRAP53 | 2 | Dec 5, 2020 |
| WRN | 1 | Dec 8, 2020 |
| XRCC2 | 1 | Apr 21, 2020 |
| ZEB2 | 1 | Dec 5, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Dec 5, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | Dec 5, 2020 |
| Familial breast and ovarian cancer | 1 | Dec 5, 2020 |
| Familial cancer of breast | 25 | Dec 5, 2020 |
| Hereditary breast cancer | 5 | Dec 5, 2020 |
| Hereditary breast ovarian cancer syndrome | 5 | Dec 5, 2020 |
| Hereditary cancer-predisposing syndrome | 7 | Dec 5, 2020 |
| Malignant tumor of breast | 71 | Dec 22, 2020 |
| Mowat-Wilson syndrome | 1 | Dec 5, 2020 |
| bilateral breast cancer | 7 | Dec 5, 2020 |