ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2562C>A (p.Pro854=)

gnomAD frequency: 0.00459  dbSNP: rs12599354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249967 SCV000312339 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524682 SCV000652414 benign Nephronophthisis 14 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001711570 SCV001946666 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000524682 SCV002514217 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711570 SCV005289751 benign not provided criteria provided, single submitter not provided

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