ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.102T>G (p.Thr34=)

gnomAD frequency: 0.00001  dbSNP: rs550757849
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425908 SCV000533610 likely benign not specified 2016-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000574635 SCV000663763 likely benign Hereditary cancer-predisposing syndrome 2015-10-02 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 RCV000574635 SCV000691215 likely benign Hereditary cancer-predisposing syndrome 2017-08-26 criteria provided, single submitter clinical testing
Invitae RCV000874162 SCV001016295 likely benign Fanconi anemia complementation group O 2024-01-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000425908 SCV002065403 likely benign not specified 2021-06-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477933 SCV004220130 likely benign not provided 2023-04-07 criteria provided, single submitter clinical testing

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