ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.3700C>T (p.Arg1234Ter)

dbSNP: rs2131488835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706868 SCV001934414 pathogenic Weiss-Kruszka syndrome 2021-02-10 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001706868 SCV004805965 pathogenic Weiss-Kruszka syndrome 2024-03-25 criteria provided, single submitter clinical testing

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