ClinVar Miner

Submissions for variant NM_145045.5(ODAD3):c.98C>A (p.Ser33Ter)

gnomAD frequency: 0.00001  dbSNP: rs1969627663
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001255308 SCV001431750 likely pathogenic Primary ciliary dyskinesia 2018-09-26 criteria provided, single submitter clinical testing

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