ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) (rs398123230)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000679234 SCV000110153 uncertain significance not provided 2013-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131252 SCV000186214 likely benign Hereditary cancer-predisposing syndrome 2017-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)
Invitae RCV000524157 SCV000218795 likely benign Hereditary nonpolyposis colon cancer 2017-12-23 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000168135 SCV000266208 uncertain significance Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000217757 SCV000279106 likely benign not specified 2018-01-30 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.
Illumina Clinical Services Laboratory,Illumina RCV000168135 SCV000430974 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000217757 SCV000601561 uncertain significance not specified 2017-03-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679234 SCV000805880 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing
Color RCV000131252 SCV000902892 benign Hereditary cancer-predisposing syndrome 2016-09-09 criteria provided, single submitter clinical testing

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