ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2190T>C (p.Pro730=) (rs1057521673)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438805 SCV000523985 likely benign not specified 2017-07-26 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 RCV000759082 SCV000625132 likely benign not provided 2019-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574993 SCV000662041 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759082 SCV000888177 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing

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