ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7472G>C (p.Arg2491Pro)

dbSNP: rs369438218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218887 SCV001390793 likely benign Primary ciliary dyskinesia 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504271 SCV002806894 uncertain significance Primary ciliary dyskinesia 7 2022-01-20 criteria provided, single submitter clinical testing
GeneDx RCV003148949 SCV003837432 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in an individual with primary ciliary dyskinesia who also harbored a likely pathogenic variant in DNAH11, although the phase of these two variants was not determined (Fassad et al., 2020); This variant is associated with the following publications: (PMID: 31879361)

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