ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8730C>G (p.Leu2910=) (rs551041839)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084626 SCV000166149 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164225 SCV000214846 likely benign Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000444064 SCV000512184 benign not specified 2015-08-14 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 RCV000164225 SCV000682510 likely benign Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000444064 SCV000694384 likely benign not specified 2019-10-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000444064 SCV000805631 benign not specified 2017-05-15 criteria provided, single submitter clinical testing

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