ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene2Care/ Palmer Lab, University of New South Wales RCV003333796 SCV002525738 pathogenic Intellectual disability, X-linked 49 2022-05-27 criteria provided, single submitter clinical testing

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