Pathway Genomics (Pathway Genomics)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 238
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| APC | 20 | Jan 12, 2015 |
| BLM | 6 | May 28, 2015 |
| BMPR1A | 1 | Aug 8, 2014 |
| BRCA1 | 40 | May 28, 2015 |
| BRCA2 | 46 | May 28, 2015 |
| BRIP1 | 2 | Aug 8, 2014 |
| CDH1 | 8 | May 28, 2015 |
| CHEK2 | 4 | Aug 8, 2014 |
| LOC126862571 | 4 | May 28, 2015 |
| LOC130062899 | 1 | Aug 8, 2014 |
| MLH1 | 16 | May 28, 2015 |
| MSH2 | 17 | May 28, 2015 |
| MSH6 | 10 | May 28, 2015 |
| MUTYH | 14 | May 28, 2015 |
| PALB2 | 9 | Jan 12, 2015 |
| PMS2 | 17 | May 28, 2015 |
| PTEN | 6 | May 28, 2015 |
| SMAD4 | 1 | Aug 8, 2014 |
| STK11 | 6 | May 28, 2015 |
| TP53 | 15 | May 28, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bloom syndrome | 6 | May 28, 2015 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 40 | May 28, 2015 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 46 | May 28, 2015 |
| Carcinoma of colon | 14 | May 28, 2015 |
| Cowden syndrome 1 | 6 | May 28, 2015 |
| Familial adenomatous polyposis 1 | 20 | Jan 12, 2015 |
| Familial cancer of breast | 13 | Jan 12, 2015 |
| Fanconi anemia complementation group J | 2 | Aug 8, 2014 |
| Generalized juvenile polyposis/juvenile polyposis coli | 2 | Aug 8, 2014 |
| Hereditary diffuse gastric adenocarcinoma | 8 | May 28, 2015 |
| Li-Fraumeni syndrome 1 | 15 | May 28, 2015 |
| Lynch syndrome 1 | 60 | May 28, 2015 |
| Peutz-Jeghers syndrome | 6 | May 28, 2015 |