ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.9G>C (p.Gly3=)

gnomAD frequency: 0.00001  dbSNP: rs751117852
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166246 SCV000217026 likely benign Hereditary cancer-predisposing syndrome 2014-10-07 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 RCV000203890 SCV000259480 likely benign Fanconi anemia complementation group O 2024-08-15 criteria provided, single submitter clinical testing
GeneDx RCV001195007 SCV000527420 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166246 SCV000686414 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000166246 SCV002530041 likely benign Hereditary cancer-predisposing syndrome 2021-07-29 criteria provided, single submitter curation
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV003483542 SCV004228292 likely benign Hereditary breast ovarian cancer syndrome 2024-01-08 criteria provided, single submitter curation rare silent variant, splice prediction negative,. According to the ACMG standard criteria we chose these criteria: PM2 (supporting pathogenic): PM2_sup; <0,01% gnomAD, BP4 (supporting benign): BP4 (Splice predictions: No predicted impact), BP7 (supporting benign): BP7 (Splice predictions: No predicted impact; nucleotide is not highly conserved)
Leiden Open Variation Database RCV001195007 SCV001365239 uncertain significance not provided 2014-11-02 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Christine Rappaport.

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