ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.795del (p.Ala266fs)

dbSNP: rs63749902
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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) RCV000076723 SCV000107757 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Institute of Human Genetics, University of Leipzig Medical Center RCV003493434 SCV004242404 pathogenic Lynch syndrome 1 2023-12-14 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PP4

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