ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) (rs55870064)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115200 SCV000212953 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000589659 SCV000840943 likely benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Color RCV000115200 SCV000682231 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120142 SCV000334654 benign not specified 2015-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000120142 SCV000149109 likely benign not specified 2017-11-07 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.
ITMI RCV000120142 SCV000084282 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000589659 SCV000694294 likely benign not provided 2017-03-24 criteria provided, single submitter clinical testing
Invitae RCV000122855 SCV000166113 benign Ataxia-telangiectasia syndrome 2018-01-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000115200 SCV000787867 likely benign Hereditary cancer-predisposing syndrome 2017-08-22 no assertion criteria provided clinical testing

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