ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2432C>A (p.Ser811Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV003389169 SCV004101167 pathogenic Neurodevelopmental disorder 2022-09-14 criteria provided, single submitter clinical testing

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