ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2088G>A (p.Thr696=)

gnomAD frequency: 0.00003  dbSNP: rs150555141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005102 SCV003300060 likely benign Nephronophthisis 14 2024-03-25 criteria provided, single submitter clinical testing
Department of Clinical Pathology, School of Medicine, Fujita Health University RCV004559997 SCV004218354 likely benign EBV-positive nodal T- and NK-cell lymphoma no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003936503 SCV004755192 likely benign ZNF423-related disorder 2019-06-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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