ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.783A>G (p.Leu261=)

gnomAD frequency: 0.00003  dbSNP: rs138643096
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163867 SCV000214454 likely benign Hereditary cancer-predisposing syndrome 2015-01-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081962 SCV000253645 likely benign Fanconi anemia complementation group O 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000759336 SCV000515582 likely benign not provided 2019-12-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163867 SCV000686390 likely benign Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759336 SCV000888604 likely benign not provided 2017-06-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163867 SCV002530015 likely benign Hereditary cancer-predisposing syndrome 2021-03-12 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004535086 SCV004713621 likely benign RAD51C-related disorder 2024-02-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000426427 SCV005205020 likely benign not specified 2024-06-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000426427 SCV001365276 likely benign not specified 2014-11-02 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Christine Rappaport.

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