ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.4324-8T>G

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004791068 SCV005413147 likely pathogenic Intellectual disability, autosomal dominant 56 2024-03-11 criteria provided, single submitter clinical testing

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