ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His) (rs727505321)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156866 SCV000206587 likely benign not specified 2014-11-05 criteria provided, single submitter clinical testing p.Arg2146His in exon 38 of DNAH11: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >10 mammals carry a histidine (His) at this position despite high nearby amino acid conservation.
PreventionGenetics,PreventionGenetics RCV000156866 SCV000307554 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000156866 SCV000517088 likely benign not specified 2015-05-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000863193 SCV001003810 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Invitae RCV001392556 SCV001594200 likely benign Primary ciliary dyskinesia 2018-12-12 criteria provided, single submitter clinical testing

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