ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1569T>C (p.Asn523=)

gnomAD frequency: 0.05236  dbSNP: rs13336762
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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 RCV000253423 SCV000312331 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545882 SCV000652404 benign Nephronophthisis 14 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683075 SCV001898801 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545882 SCV002514226 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683075 SCV005289756 benign not provided criteria provided, single submitter not provided

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