ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter)

dbSNP: rs63750938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075882 SCV000106898 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon

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