ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.237T>G (p.Ser79=)

dbSNP: rs1555593575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015329 SCV001176151 likely benign Hereditary cancer-predisposing syndrome 2019-09-08 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.
Invitae RCV003507346 SCV004338192 likely benign Fanconi anemia complementation group O 2023-11-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001195014 SCV001365252 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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