ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4578C>T (p.Pro1526=) (rs1800889)

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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 RCV000162381 SCV000212691 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Color RCV000162381 SCV000537351 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000119133 SCV000732992 benign Ataxia-telangiectasia syndrome no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116426 SCV000856495 benign not specified 2017-08-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116426 SCV000150351 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119133 SCV000743728 benign Ataxia-telangiectasia syndrome 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119133 SCV000367056 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162381 SCV000679693 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000119133 SCV000153847 benign Ataxia-telangiectasia syndrome 2017-08-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000116426 SCV000538366 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: Frequency
PreventionGenetics RCV000116426 SCV000301670 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162381 SCV000787866 likely benign Hereditary cancer-predisposing syndrome 2018-03-02 no assertion criteria provided clinical testing

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