ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4473C>T (p.Phe1491=) (rs4988008)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000123748 SCV000212881 likely benign Hereditary cancer-predisposing syndrome 2016-11-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000587530 SCV000840942 likely benign not provided 2017-11-22 criteria provided, single submitter clinical testing
Color RCV000123748 SCV000682210 benign Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000122850 SCV000745126 likely benign Ataxia-telangiectasia syndrome 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212018 SCV000701957 benign not specified 2016-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000212018 SCV000167091 benign not specified 2013-12-24 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,VU University Medical Center Amsterdam RCV000122850 SCV000745815 likely benign Ataxia-telangiectasia syndrome 2017-03-23 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000122850 SCV000367055 uncertain significance Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587530 SCV000694284 benign not provided 2016-03-07 criteria provided, single submitter clinical testing
Invitae RCV000122850 SCV000166108 benign Ataxia-telangiectasia syndrome 2018-01-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000587530 SCV000805566 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000123748 SCV000886663 likely benign Hereditary cancer-predisposing syndrome 2018-09-06 no assertion criteria provided clinical testing

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