ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3656C>T (p.Thr1219Ile) (rs63750949)

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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 RCV000572978 SCV000676115 likely pathogenic Hereditary cancer-predisposing syndrome 2017-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074910 SCV000108122 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence

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