ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2517T>C (p.Cys839=)

gnomAD frequency: 0.00008  dbSNP: rs761360598
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002186182 SCV002486303 likely benign Nephronophthisis 14 2023-04-30 criteria provided, single submitter clinical testing

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