ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2547A>G (p.Thr849=) (rs769018957)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200851 SCV000253097 likely benign Lynch syndrome 2015-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000428545 SCV000528392 likely benign not specified 2016-06-01 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000428545 SCV000601534 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563290 SCV000676139 likely benign Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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