ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.2592A>G (p.Pro864=)

gnomAD frequency: 0.00048  dbSNP: rs145042199
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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 RCV001422806 SCV001625363 likely benign Primary ciliary dyskinesia 23 2024-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908615 SCV004727171 likely benign ODAD2-related disorder 2022-12-27 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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