ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7785T>C (p.Asp2595=) (rs34838175)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220642 SCV000273657 likely benign Hereditary cancer-predisposing syndrome 2015-01-19 criteria provided, single submitter clinical testing
Color RCV000220642 SCV000687789 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000122883 SCV000793886 likely benign Ataxia-telangiectasia syndrome 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000437963 SCV000530153 likely benign not specified 2017-11-21 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.
Invitae RCV000122883 SCV000166141 likely benign Ataxia-telangiectasia syndrome 2017-08-17 criteria provided, single submitter clinical testing

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