ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3226C>A (p.Leu1076Met)

gnomAD frequency: 0.00398  dbSNP: rs79706004
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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 RCV000247210 SCV000312344 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000528778 SCV000652420 benign Nephronophthisis 14 2024-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000528778 SCV002514213 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422174 SCV004139286 benign not provided 2023-10-01 criteria provided, single submitter clinical testing ZNF423: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003422174 SCV005289747 benign not provided criteria provided, single submitter not provided

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