ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.21T>C (p.Val7=) (rs781725830)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426260 SCV000523995 likely benign not specified 2017-07-11 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 RCV000470867 SCV000555981 likely benign not provided 2018-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569524 SCV000662080 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000569524 SCV000908599 likely benign Hereditary cancer-predisposing syndrome 2018-02-06 criteria provided, single submitter clinical testing

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