ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.672A>G (p.Glu224=)

gnomAD frequency: 0.00001  dbSNP: rs1299728001
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001475882 SCV001680080 likely benign Primary ciliary dyskinesia 23 2024-08-30 criteria provided, single submitter clinical testing

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