ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)

dbSNP: rs63750542
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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) RCV000075669 SCV000106671 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding variation introducing premature termination codon
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267837 SCV002552423 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing

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