ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.112A>T (p.Thr38Ser)

gnomAD frequency: 0.00001  dbSNP: rs778551218
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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 RCV001255253 SCV001431612 uncertain significance Primary ciliary dyskinesia 2020-02-17 criteria provided, single submitter clinical testing

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