ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3300C>T (p.Cys1100=)

gnomAD frequency: 0.00073  dbSNP: rs147816446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625377 SCV000745144 likely benign Nephronophthisis 14 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625377 SCV001020635 likely benign Nephronophthisis 14 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420082 SCV004139285 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001701133 SCV001923057 benign not specified no assertion criteria provided clinical testing

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