Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031065 | SCV000282288 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-04-22 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000031065 | SCV000325442 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387940 | SCV001588700 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu904*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) and Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 37484). This variant is not present in population databases (ExAC no frequency). |
Sharing Clinical Reports Project |
RCV000031065 | SCV000053661 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-07-20 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031065 | SCV000144520 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001354425 | SCV001549039 | uncertain significance | not provided | no assertion criteria provided | clinical testing |