ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.711C>T (p.Arg237=)

gnomAD frequency: 0.00969  dbSNP: rs16947744
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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 RCV000531207 SCV000652426 benign Nephronophthisis 14 2025-02-03 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000531207 SCV000745145 likely benign Nephronophthisis 14 2017-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000531207 SCV002514229 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704087 SCV005216406 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001701079 SCV001926107 benign not specified no assertion criteria provided clinical testing

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