ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7994A>G (p.Glu2665Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224950 SCV003920987 likely pathogenic Intellectual disability, autosomal dominant 13 2022-09-26 criteria provided, single submitter clinical testing

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