ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.45G>C (p.Val15=) (rs768409958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507414 SCV000601402 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000533471 SCV000625166 likely benign Hereditary nonpolyposis colon cancer 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575388 SCV000662035 likely benign Hereditary cancer-predisposing syndrome 2016-08-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000507414 SCV000717286 likely benign not specified 2017-03-15 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.

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