ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1269T>C (p.Thr423=)

gnomAD frequency: 0.00001  dbSNP: rs745374544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219801 SCV000276611 likely benign Hereditary cancer-predisposing syndrome 2015-07-09 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.
Invitae RCV000219801 SCV000753424 likely benign Hereditary cancer-predisposing syndrome 2023-08-07 criteria provided, single submitter clinical testing

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