ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs)

dbSNP: rs63750161
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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) RCV000076165 SCV000107180 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269958 SCV001450342 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003387752 SCV004099378 pathogenic Lynch syndrome 1 2023-10-30 no assertion criteria provided clinical testing

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