ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1827C>T (p.Ala609=)

gnomAD frequency: 0.00016  dbSNP: rs376118736
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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 RCV001513876 SCV001721572 benign Nephronophthisis 14 2023-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940914 SCV004751192 likely benign ZNF423-related disorder 2019-05-31 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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