ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.609C>T (p.Asp203=) (rs144709948)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679133 SCV000885038 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000123719 SCV000213018 likely benign Hereditary cancer-predisposing syndrome 2014-06-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000679133 SCV000840949 likely benign not provided 2017-11-07 criteria provided, single submitter clinical testing
Color RCV000123719 SCV000682306 benign Hereditary cancer-predisposing syndrome 2016-04-18 criteria provided, single submitter clinical testing
Counsyl RCV000122866 SCV000793299 likely benign Ataxia-telangiectasia syndrome 2017-08-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000122866 SCV000745121 likely benign Ataxia-telangiectasia syndrome 2017-10-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000122866 SCV000732987 likely benign Ataxia-telangiectasia syndrome no assertion criteria provided clinical testing
GeneDx RCV000211950 SCV000167062 benign not specified 2014-01-20 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.
Invitae RCV000122866 SCV000166124 benign Ataxia-telangiectasia syndrome 2018-01-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000211950 SCV000301679 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000679133 SCV000805594 likely benign not provided 2015-06-18 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000123719 SCV000787876 likely benign Hereditary cancer-predisposing syndrome 2017-10-30 no assertion criteria provided clinical testing

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