ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3336G>A (p.Val1112=)

gnomAD frequency: 0.00154  dbSNP: rs61739947
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553696 SCV000652422 benign Nephronophthisis 14 2024-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715287 SCV005289746 benign not provided criteria provided, single submitter not provided

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