ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2328C>T (p.His776=)

gnomAD frequency: 0.00402  dbSNP: rs73565356
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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 RCV000242848 SCV000312337 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536184 SCV000652412 benign Nephronophthisis 14 2024-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000536184 SCV002514219 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422173 SCV004139293 benign not provided 2023-10-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003422173 SCV005289753 benign not provided criteria provided, single submitter not provided

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