ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3281A>G (p.Asp1094Gly)

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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 Immunology and Genetics Kaiserslautern RCV004771577 SCV005382141 likely pathogenic Intellectual disability, autosomal dominant 13 2024-09-23 criteria provided, single submitter clinical testing ACMG Criteria: PP3, PM1, PM2, PM5_P; Variant was found in heterozygous state.

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