ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.579A>G (p.Ser193=) (rs587781038)

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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 RCV000126772 SCV000214708 likely benign Hereditary cancer-predisposing syndrome 2014-06-17 criteria provided, single submitter clinical testing
Color RCV000126772 SCV000684844 likely benign Hereditary cancer-predisposing syndrome 2015-08-05 criteria provided, single submitter clinical testing
Counsyl RCV000410330 SCV000489613 likely benign Lynch syndrome II 2016-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000212520 SCV000170289 benign not specified 2014-06-04 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 RCV000462193 SCV000555957 benign Hereditary nonpolyposis colon cancer 2018-01-04 criteria provided, single submitter clinical testing

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