ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.312C>T (p.Asp104=)

gnomAD frequency: 0.00178  dbSNP: rs117266679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550152 SCV000652416 benign Nephronophthisis 14 2025-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000550152 SCV002514231 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891948 SCV000312342 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).
Clinical Genetics, Academic Medical Center RCV000251465 SCV001917745 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701970 SCV001930267 likely benign not provided no assertion criteria provided clinical testing

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