ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2001C>T (p.Asp667=) (rs63750014)

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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 RCV000164589 SCV000215248 likely benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Color RCV000164589 SCV000908652 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000601523 SCV000714434 likely benign not specified 2017-03-16 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.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075479 SCV000106475 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000630327 SCV000751283 likely benign Hereditary nonpolyposis colon cancer 2017-08-29 criteria provided, single submitter clinical testing

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