ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2046_2047del (p.Val684fs) (rs587779131)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076369 SCV000107396 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV000491368 SCV000580483 pathogenic Hereditary cancer-predisposing syndrome 2016-03-11 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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