Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112220 | SCV000300048 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Department of Medical Genetics, |
RCV000112220 | SCV000564373 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000112220 | SCV000144928 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-04-22 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496280 | SCV000587363 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |