ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val) (rs201386161)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244255 SCV000307483 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000459210 SCV000551712 likely benign Primary ciliary dyskinesia 2019-12-11 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000459210 SCV001431748 uncertain significance Primary ciliary dyskinesia 2018-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001567623 SCV001791343 uncertain significance not provided 2020-03-12 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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