ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.126G>A (p.Lys42=) (rs754823399)

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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 RCV000167263 SCV000218104 likely benign Hereditary cancer-predisposing syndrome 2014-12-12 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 RCV000933856 SCV001079565 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Invitae RCV000167263 SCV001614321 likely benign Hereditary cancer-predisposing syndrome 2020-01-16 criteria provided, single submitter clinical testing

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