ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3117C>A (p.Ser1039=)

gnomAD frequency: 0.00007  dbSNP: rs748563808
Minimum review status: Collection method:
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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 RCV001398985 SCV001600769 likely benign Nephronophthisis 14 2023-05-01 criteria provided, single submitter clinical testing

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