ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) (rs63750899)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075432 SCV000106428 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
Ambry Genetics RCV000162472 SCV000212839 pathogenic Hereditary cancer-predisposing syndrome 2018-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Other strong data supporting pathogenic classification,Deficient protein function in appropriate functional assay(s)
OMIM RCV000018629 SCV000038912 pathogenic Lynch syndrome II 2004-07-01 no assertion criteria provided literature only
OMIM RCV000018630 SCV000038913 pathogenic Turcot syndrome 2004-07-01 no assertion criteria provided literature only

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