ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.567T>C (p.Arg189=)

gnomAD frequency: 0.55195  dbSNP: rs3803665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249032 SCV000312350 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518072 SCV001726706 benign Nephronophthisis 14 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518072 SCV002514230 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714597 SCV005289759 benign not provided criteria provided, single submitter not provided

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