ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3165G>A (p.Ala1055=)

gnomAD frequency: 0.00029  dbSNP: rs146700251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890978 SCV001034763 likely benign Nephronophthisis 14 2023-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727820 SCV004139287 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001701235 SCV001925613 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727820 SCV001971802 likely benign not provided no assertion criteria provided clinical testing

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