ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1089G>A (p.Leu363=)

gnomAD frequency: 0.00002  dbSNP: rs559647198
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163690 SCV000214264 likely benign Hereditary cancer-predisposing syndrome 2015-03-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000196303 SCV000253636 likely benign Fanconi anemia complementation group O 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001697089 SCV000530362 likely benign not provided 2019-10-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163690 SCV000686318 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163690 SCV002531788 likely benign Hereditary cancer-predisposing syndrome 2020-11-06 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002492648 SCV002801711 likely benign Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2021-11-12 criteria provided, single submitter clinical testing

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