ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2133G>A (p.Ser711=)

gnomAD frequency: 0.00221  dbSNP: rs143934881
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251271 SCV000312336 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000543752 SCV000652410 benign Nephronophthisis 14 2024-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000543752 SCV002514220 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001699416 SCV003917514 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001699416 SCV001919423 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699416 SCV001967894 likely benign not provided no assertion criteria provided clinical testing

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