ClinVar Miner

Submissions for variant NM_021147.5(CCNO):c.354G>A (p.Pro118=)

gnomAD frequency: 0.00139  dbSNP: rs368155527
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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 RCV000459440 SCV000562728 benign Primary ciliary dyskinesia 2024-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925389 SCV004739836 likely benign CCNO-related disorder 2019-09-25 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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