ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320950 SCV004024796 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV005055464 SCV005689672 likely pathogenic Lynch syndrome 2025-02-04 criteria provided, single submitter clinical testing PVS1; PM2_SUP;

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