ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2187C>T (p.Tyr729=) (rs373430058)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205184 SCV000260851 likely benign Ataxia-telangiectasia syndrome 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000219978 SCV000274347 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 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.
GeneDx RCV000444310 SCV000512142 benign not specified 2015-07-27 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.
Color Health, Inc RCV000219978 SCV000682037 likely benign Hereditary cancer-predisposing syndrome 2017-02-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444310 SCV001372268 likely benign not specified 2020-06-27 criteria provided, single submitter clinical testing

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