ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) (rs779834376)

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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 RCV000222506 SCV000273254 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Baylor Miraca Genetics Laboratories, RCV000505229 SCV000598656 likely pathogenic Fanconi anemia, complementation group O 2017-08-01 no assertion criteria provided clinical testing This missense variant has been observed in a newborn patient with Fanconi anemia. The diagnosis was confirmed by chromosome breakage analysis. The p.R312 residue is highly conserved. Prediction programs including SIFT and Polyphen2 predicts this variant as as deleterious/probably damaging. Heterozygous carriers are expected to be asymptomatic carriers
Color RCV000222506 SCV000686406 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-18 criteria provided, single submitter clinical testing

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