ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.4602_4603dup (p.Lys1535fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003222554 SCV003915936 likely pathogenic Intellectual disability, autosomal dominant 56 2023-04-18 criteria provided, single submitter clinical testing

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