ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7630-17T>C (rs116047570)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212073 SCV000167057 benign not specified 2014-01-08 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 RCV000123714 SCV000682426 benign Hereditary cancer-predisposing syndrome 2015-04-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000212073 SCV000805614 benign not specified 2017-10-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286367 SCV001472927 likely benign none provided 2019-10-11 criteria provided, single submitter clinical testing
Invitae RCV001517746 SCV001726310 benign Ataxia-telangiectasia syndrome 2020-10-28 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000123714 SCV000264890 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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