ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5793T>C (p.Ala1931=) (rs3092910)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000116428 SCV000602553 benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000123752 SCV000212674 likely benign Hereditary cancer-predisposing syndrome 2015-09-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416115 SCV000493543 likely benign not provided 2016-07-31 criteria provided, single submitter clinical testing
Color RCV000123752 SCV000537381 benign Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000119174 SCV000745129 likely benign Ataxia-telangiectasia syndrome 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116428 SCV000334466 benign not specified 2015-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000116428 SCV000167095 benign not specified 2013-10-10 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 RCV000116428 SCV000150353 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Invitae RCV000119174 SCV000153905 benign Ataxia-telangiectasia syndrome 2018-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000116428 SCV000538368 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent variant not near splice site
PreventionGenetics RCV000116428 SCV000301676 likely benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000123752 SCV000787874 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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