ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3163G>C (p.Ala1055Pro) (rs587779254)

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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 RCV000223291 SCV000277857 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-21 criteria provided, single submitter clinical testing
Color RCV000223291 SCV000685356 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000114751 SCV000148649 likely pathogenic Lynch syndrome 2018-12-19 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability >0.95

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