ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) (rs145847315)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129192 SCV000183931 benign Hereditary cancer-predisposing syndrome 2014-06-30 criteria provided, single submitter clinical testing
Color RCV000129192 SCV000682300 benign Hereditary cancer-predisposing syndrome 2014-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000122865 SCV000220654 likely benign Ataxia-telangiectasia syndrome 2014-08-28 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120150 SCV000230532 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000120150 SCV000167096 benign not specified 2014-01-27 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.
Genetic Services Laboratory, University of Chicago RCV000120150 SCV000246618 benign not specified 2016-11-23 criteria provided, single submitter clinical testing
ITMI RCV000120150 SCV000084291 not provided not specified 2013-09-19 no assertion provided reference population
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000129192 SCV000576461 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV000122865 SCV000166123 benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120150 SCV000805592 benign not specified 2017-08-11 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129192 SCV000787875 likely benign Hereditary cancer-predisposing syndrome 2017-10-26 no assertion criteria provided clinical testing

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