ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.1585C>T (p.Arg529Trp) (rs200452908)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174297 SCV000225576 uncertain significance not provided 2015-02-24 criteria provided, single submitter clinical testing
Invitae RCV000463597 SCV000546313 likely benign Primary ciliary dyskinesia 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000174297 SCV001805764 uncertain significance not provided 2020-07-14 no assertion criteria provided 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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