ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003987296 SCV004801912 likely pathogenic Intellectual disability, autosomal dominant 56 2023-11-08 criteria provided, single submitter clinical testing

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