ClinVar Miner

Submissions for variant NM_024528.4(NKAP):c.1037C>T (p.Ser346Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV004515749 SCV005013300 uncertain significance Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 2024-04-16 criteria provided, single submitter clinical testing

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