ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter) (rs63750245)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030234 SCV000107014 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variant introducing a premature termination codon
Integrated Genetics/Laboratory Corporation of America RCV000030234 SCV000052901 pathogenic Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759091 SCV000888193 pathogenic not provided 2017-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001009753 SCV001169856 pathogenic Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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