ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) (rs63751328)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166108 SCV000216875 likely pathogenic Hereditary cancer-predisposing syndrome 2016-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074890 SCV000108102 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
PreventionGenetics RCV000679239 SCV000805895 likely pathogenic not provided 2017-11-16 criteria provided, single submitter clinical testing

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