ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1363C>T (p.Leu455=)

gnomAD frequency: 0.00001  dbSNP: rs1446437246
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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 RCV002187785 SCV002355310 likely benign Nephronophthisis 14 2023-10-17 criteria provided, single submitter clinical testing

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