ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.807C>T (p.Asp269=)

gnomAD frequency: 0.00101  dbSNP: rs145503941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178954 SCV000231136 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088120 SCV000652427 benign Nephronophthisis 14 2023-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751341 SCV005361699 likely benign ZNF423-related disorder 2024-05-29 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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