ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.915_922dup (p.Arg308fs)

dbSNP: rs63750046
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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) RCV000076749 SCV000107786 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Myriad Genetics, Inc. RCV003452975 SCV004187866 pathogenic Lynch syndrome 1 2023-07-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001795049 SCV002034338 pathogenic not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795049 SCV002035771 pathogenic not provided no assertion criteria provided clinical testing

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