ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr)

gnomAD frequency: 0.01162  dbSNP: rs147898137
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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 RCV000249128 SCV000312347 benign not specified 2016-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547288 SCV000652424 benign Nephronophthisis 14 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000547288 SCV000743741 benign Nephronophthisis 14 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000547288 SCV000745143 likely benign Nephronophthisis 14 2017-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547288 SCV002514210 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705102 SCV005216397 likely benign not provided criteria provided, single submitter not provided

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