ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2769G>A (p.Glu923=)

dbSNP: rs369901240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146628 SCV002468377 likely benign Nephronophthisis 14 2023-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895988 SCV004712339 likely benign ZNF423-related disorder 2020-10-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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