ClinVar Miner

Submissions for variant NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)

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Total submissions: 1
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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 RCV002287197 SCV002577361 likely pathogenic Intellectual disability, X-linked, syndromic, Bain type 2022-07-08 criteria provided, single submitter clinical testing

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