ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.558C>T (p.His186=) (rs63751050)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615509 SCV000720814 likely benign not specified 2017-06-29 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) RCV000075762 SCV000106770 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000525382 SCV000625177 likely benign Hereditary nonpolyposis colon cancer 2017-12-29 criteria provided, single submitter clinical testing

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