ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln)

dbSNP: rs368249392
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Total submissions: 3
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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 RCV001255292 SCV001431726 uncertain significance Primary ciliary dyskinesia 2019-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001255292 SCV003520268 benign Primary ciliary dyskinesia 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV004727054 SCV005332750 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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