ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute RCV003448886 SCV004176710 pathogenic Weiss-Kruszka syndrome 2023-12-04 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003448886 SCV004244507 likely pathogenic Weiss-Kruszka syndrome 2023-11-22 criteria provided, single submitter clinical testing PVS1, PM2

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