ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3336T>A (p.Pro1112=) (rs758784434)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197409 SCV000252958 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000223244 SCV000273815 likely benign Hereditary cancer-predisposing syndrome 2015-02-09 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.
GeneDx RCV000439128 SCV000512156 benign not specified 2015-08-21 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 RCV000223244 SCV000682120 likely benign Hereditary cancer-predisposing syndrome 2016-12-18 criteria provided, single submitter clinical testing
Counsyl RCV000197409 SCV000797257 likely benign Ataxia-telangiectasia syndrome 2018-01-18 criteria provided, single submitter clinical testing

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