ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8419-19A>G (rs12279930)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128896 SCV000172756 benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000128896 SCV000576464 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV000128896 SCV000682485 benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
Counsyl RCV000672211 SCV000797294 benign Ataxia-telangiectasia syndrome 2018-01-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679149 SCV000805627 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286956 SCV001473589 benign none provided 2020-04-27 criteria provided, single submitter clinical testing
Invitae RCV000672211 SCV001724761 benign Ataxia-telangiectasia syndrome 2020-12-02 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000128896 SCV000264874 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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