ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg) (rs587779778)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129248 SCV000184007 likely pathogenic Hereditary cancer-predisposing syndrome 2017-11-22 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,Structural Evidence,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000114750 SCV000148648 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability 0.95-0.99

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