ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1602T>A (p.Arg534=)

dbSNP: rs267607965
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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) RCV000076205 SCV000107222 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous substitution with no effect on splicing, tested with NMD inhibitor
Invitae RCV001461467 SCV001665368 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-09-20 criteria provided, single submitter clinical testing

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