ClinVar Miner

Submissions for variant NM_024528.4(NKAP):c.989G>A (p.Arg330His)

dbSNP: rs1603379780
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001027521 SCV002525928 likely pathogenic Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 2022-05-17 criteria provided, single submitter clinical testing
OMIM RCV001027521 SCV001190093 pathogenic Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 2020-03-17 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724211 SCV001954363 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724211 SCV001964312 likely pathogenic not provided no assertion criteria provided clinical testing

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