Molecular Pathology (Peter MacCallum Cancer Centre)
General information
Personnel
- victoria beshay, Variant scientist/curator
Phone: 0411311770
Email: Germlinecuration@petermac.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1717
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIP | 4 | Jul 10, 2025 |
| ANKRD26 | 2 | Jul 10, 2025 |
| APC | 76 | Jul 10, 2025 |
| ATM | 132 | Jul 10, 2025 |
| AXIN2 | 14 | Jul 10, 2025 |
| BAP1 | 14 | Jul 10, 2025 |
| BARD1 | 56 | Jul 10, 2025 |
| BMPR1A | 10 | Jul 10, 2025 |
| BRCA1 | 100 | Jul 10, 2025 |
| BRCA2 | 182 | Jul 10, 2025 |
| BRIP1 | 81 | Jul 10, 2025 |
| BUB1B | 13 | Jul 10, 2025 |
| C11orf65 | 50 | Jul 10, 2025 |
| CDC73 | 2 | Jul 10, 2025 |
| CDH1 | 16 | Jul 10, 2025 |
| CDK4 | 4 | Jul 10, 2025 |
| CDKN1B | 1 | Jul 10, 2025 |
| CDKN2A | 13 | Jul 10, 2025 |
| CHEK2 | 60 | Jul 10, 2025 |
| DDX41 | 22 | Jul 10, 2025 |
| DICER1 | 7 | Jul 10, 2025 |
| EPCAM | 1 | Jul 10, 2025 |
| ETV6 | 1 | Jul 10, 2025 |
| EXT1 | 1 | Jul 10, 2025 |
| EXT2 | 3 | Jul 10, 2025 |
| FH | 23 | Jul 10, 2025 |
| FLCN | 10 | Jul 10, 2025 |
| GATA2 | 3 | Jul 10, 2025 |
| GREM1 | 4 | Jul 10, 2025 |
| HOXB13 | 6 | Jul 10, 2025 |
| IDH1 | 3 | Jul 10, 2025 |
| KIF1B | 2 | Jul 10, 2025 |
| KIT | 2 | Jul 10, 2025 |
| LOC106736614 | 1 | Jul 10, 2025 |
| LOC107303340 | 9 | Jul 10, 2025 |
| LOC111811965 | 4 | Jul 10, 2025 |
| LOC126862571 | 11 | Jul 10, 2025 |
| LOC129390903 | 2 | Jul 10, 2025 |
| LOC129933707 | 1 | Jul 10, 2025 |
| LOC130001603 | 1 | Jul 10, 2025 |
| LOC130002133 | 2 | Jul 10, 2025 |
| LOC130006206 | 1 | Jul 10, 2025 |
| LOC130009266 | 1 | Jul 10, 2025 |
| LOC130062899 | 2 | Jul 10, 2025 |
| LZTR1 | 4 | Jul 10, 2025 |
| MAX | 1 | Jul 10, 2025 |
| MDH2 | 1 | Jul 10, 2025 |
| MEN1 | 14 | Jul 10, 2025 |
| MET | 8 | Jul 10, 2025 |
| MIR4733HG | 4 | Jul 10, 2025 |
| MLH1 | 61 | Jul 10, 2025 |
| MSH2 | 69 | Jul 10, 2025 |
| MSH6 | 119 | Jul 10, 2025 |
| MUTYH | 22 | Jul 10, 2025 |
| NF1 | 45 | Jul 10, 2025 |
| NF2 | 3 | Jul 10, 2025 |
| NTHL1 | 13 | Jul 10, 2025 |
| PALB2 | 93 | Jul 10, 2025 |
| PDGFRA | 2 | Jul 10, 2025 |
| PKD1 | 1 | Jul 10, 2025 |
| PMS2 | 72 | Jul 10, 2025 |
| POLD1 | 14 | Jul 10, 2025 |
| POLE | 20 | Jul 10, 2025 |
| POT1 | 6 | Jul 10, 2025 |
| PRKAR1A | 1 | Jul 10, 2025 |
| PTCH1 | 6 | Jul 10, 2025 |
| PTEN | 13 | Jul 10, 2025 |
| RAD51C | 42 | Jul 10, 2025 |
| RAD51D | 34 | Jul 10, 2025 |
| RAD51L3-RFFL | 34 | Jul 10, 2025 |
| RB1 | 9 | Jul 10, 2025 |
| RET | 18 | Jul 10, 2025 |
| RNF43 | 1 | Jul 10, 2025 |
| RUNX1 | 1 | Jul 10, 2025 |
| SAMD9 | 3 | Jul 10, 2025 |
| SAMD9L | 1 | Jul 10, 2025 |
| SDHA | 17 | Jul 10, 2025 |
| SDHB | 13 | Jul 10, 2025 |
| SDHC | 10 | Jul 10, 2025 |
| SDHD | 6 | Jul 10, 2025 |
| SMAD4 | 7 | Jul 10, 2025 |
| SMARCA4 | 2 | Jul 10, 2025 |
| SMARCB1 | 2 | Jul 10, 2025 |
| STK11 | 20 | Jul 10, 2025 |
| TMEM127 | 1 | Jul 10, 2025 |
| TP53 | 30 | Jul 10, 2025 |
| TSC1 | 14 | Jul 10, 2025 |
| TSC2 | 17 | Jul 10, 2025 |
| TSPAN31 | 3 | Jul 10, 2025 |
| VHL | 14 | Jul 10, 2025 |