ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) (rs3218695)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129054 SCV000183749 benign Hereditary cancer-predisposing syndrome 2014-08-29 criteria provided, single submitter clinical testing
Color RCV000129054 SCV000682054 likely benign Hereditary cancer-predisposing syndrome 2018-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000120123 SCV000167071 benign not specified 2013-12-16 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000206885 SCV000743723 benign Ataxia-telangiectasia syndrome 2016-02-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000206885 SCV000745809 benign Ataxia-telangiectasia syndrome 2017-03-24 no assertion criteria provided clinical testing
ITMI RCV000120123 SCV000084261 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000206885 SCV000262027 benign Ataxia-telangiectasia syndrome 2018-01-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120123 SCV000805516 benign not specified 2017-03-30 criteria provided, single submitter clinical testing

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