ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.453G>A (p.Val151=)

gnomAD frequency: 0.00002  dbSNP: rs45553636
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589704 SCV000515478 likely benign not provided 2020-01-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21537932)
Ambry Genetics RCV000568149 SCV000663753 likely benign Hereditary cancer-predisposing syndrome 2017-04-13 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.
Color Diagnostics, LLC DBA Color Health RCV000568149 SCV000686354 likely benign Hereditary cancer-predisposing syndrome 2017-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000443166 SCV000699810 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV001089442 SCV000770085 likely benign Fanconi anemia complementation group O 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000589704 SCV000807170 likely benign not provided 2017-10-11 criteria provided, single submitter clinical testing

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