ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3180G>A (p.Ala1060=)

gnomAD frequency: 0.00048  dbSNP: rs117592972
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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 RCV000554895 SCV000652419 benign Nephronophthisis 14 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905434 SCV004724227 benign ZNF423-related disorder 2019-06-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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