ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.356dup (p.Ile120fs) (rs1114167776)

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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 RCV000491955 SCV000580330 pathogenic Hereditary cancer-predisposing syndrome 2016-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785437 SCV000924009 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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