ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5352C>T (p.Asn1784=) (rs140641762)

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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 RCV000162510 SCV000212901 likely benign Hereditary cancer-predisposing syndrome 2015-05-08 criteria provided, single submitter clinical testing
Color RCV000162510 SCV000682264 likely benign Hereditary cancer-predisposing syndrome 2016-08-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732576 SCV000860546 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000610219 SCV000714708 likely benign not specified 2017-11-16 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 RCV000463383 SCV000558435 likely benign Ataxia-telangiectasia syndrome 2017-12-24 criteria provided, single submitter clinical testing

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