ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1254A>G (p.Gln418=) (rs4987943)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506744 SCV000602554 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130976 SCV000185893 benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Color RCV000130976 SCV000681962 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119159 SCV000367027 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000130976 SCV000679695 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000119159 SCV000153880 benign Ataxia-telangiectasia syndrome 2018-01-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000506744 SCV000805493 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130976 SCV000787843 likely benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided clinical testing

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