ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1020C>G (p.Ser340=) (rs374770981)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163794 SCV000214375 likely benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Invitae RCV000205904 SCV000259845 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000424077 SCV000513618 benign not specified 2015-09-08 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.
Color RCV000163794 SCV000684709 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000205904 SCV001134283 likely benign not provided 2018-09-11 criteria provided, single submitter clinical testing

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