ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.378T>A (p.Asp126Glu) (rs2234997)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130989 SCV000185911 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710670 SCV000840934 benign not provided 2017-07-17 criteria provided, single submitter clinical testing
Color RCV000130989 SCV000682161 benign Hereditary cancer-predisposing syndrome 2014-11-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116424 SCV000230839 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116424 SCV000150349 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.
ITMI RCV000116424 SCV000084299 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000383613 SCV000367020 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000130989 SCV000576458 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000383613 SCV000558347 benign Ataxia-telangiectasia syndrome 2017-08-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116424 SCV000301664 benign not specified criteria provided, single submitter clinical testing

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