ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3351G>A (p.Pro1117=)

gnomAD frequency: 0.01899  dbSNP: rs113531514
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243740 SCV000312346 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532416 SCV000652423 benign Nephronophthisis 14 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000532416 SCV002514211 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714596 SCV005289745 benign not provided criteria provided, single submitter not provided

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