ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.958dup (p.Thr320fs)

dbSNP: rs63749852
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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) RCV000076763 SCV000107801 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Human Genetics Bochum, Ruhr University Bochum RCV002463637 SCV002758598 pathogenic Lynch syndrome 1 2022-03-22 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2

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