ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=)

gnomAD frequency: 0.00061  dbSNP: rs142344079
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950312 SCV001096609 benign Nephronophthisis 14 2024-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000950312 SCV002807705 likely benign Nephronophthisis 14 2021-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413751 SCV004139295 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7

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