ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1299T>G (p.Tyr433Ter) (rs267608055)

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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 RCV000491745 SCV000580275 pathogenic Hereditary cancer-predisposing syndrome 2018-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion),Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502404 SCV000592583 pathogenic Lynch syndrome 2015-09-08 criteria provided, single submitter clinical testing

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