ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1131C>T (p.Ser377=)

gnomAD frequency: 0.00005  dbSNP: rs369662414
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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 RCV000252092 SCV000312328 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514220 SCV001722015 benign Nephronophthisis 14 2023-11-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001514220 SCV002514228 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703548 SCV005216405 likely benign not provided criteria provided, single submitter not provided

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