Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719705 | SCV000531589 | likely benign | not provided | 2019-01-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25722345, 28508593, 30212499) |
Color Diagnostics, |
RCV000774940 | SCV000909016 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-18 | criteria provided, single submitter | clinical testing | This missense variant replaces aspartic acid with glutamic acid at codon 1546 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Invitae | RCV000941372 | SCV001087257 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-08-05 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031182 | SCV000053782 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-07-19 | no assertion criteria provided | clinical testing |