ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1444dup (p.Arg482fs) (rs63750068)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076162 SCV000107178 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV000491299 SCV000580626 pathogenic Hereditary cancer-predisposing syndrome 2016-03-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076162 SCV000592502 pathogenic Lynch syndrome 2014-04-16 criteria provided, single submitter clinical testing

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