Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000191396 | SCV000244755 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-01-12 | reviewed by expert panel | curation | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30). |
Gene |
RCV001610505 | SCV001839970 | benign | not provided | 2018-06-23 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001610505 | SCV005251081 | benign | not provided | criteria provided, single submitter | not provided |