ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1560C>T (p.Asp520=)

gnomAD frequency: 0.00073  dbSNP: rs149371639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529414 SCV000652403 benign Nephronophthisis 14 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935500 SCV004749725 likely benign ZNF423-related disorder 2019-07-26 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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