ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7788+8G>T (rs112775908)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000115256 SCV000602565 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000589845 SCV000840964 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Color RCV000579980 SCV000682434 likely benign Hereditary cancer-predisposing syndrome 2015-01-09 criteria provided, single submitter clinical testing
Counsyl RCV000119166 SCV000792935 likely benign Ataxia-telangiectasia syndrome 2017-07-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000115256 SCV000854937 likely benign not specified 2018-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000115256 SCV000149165 benign not specified 2015-04-13 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.
Integrated Genetics/Laboratory Corporation of America RCV000589845 SCV000694360 benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV000119166 SCV000153893 benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000115256 SCV000301684 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000589845 SCV000805617 likely benign not provided 2016-06-07 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000579980 SCV000886666 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 no assertion criteria provided clinical testing

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