ClinVar Miner

Submissions for variant NM_001303052.2(MYT1L):c.591C>G (p.Tyr197Ter)

dbSNP: rs528530098
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274462 SCV002559186 pathogenic Intellectual disability, autosomal dominant 39 criteria provided, single submitter clinical testing

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