ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys)

gnomAD frequency: 0.00088  dbSNP: rs199613080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860652 SCV001000769 likely benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing
New York Genome Center RCV001836913 SCV002097931 uncertain significance Primary ciliary dyskinesia 7 2021-03-04 criteria provided, single submitter clinical testing
GeneDx RCV002286793 SCV002576836 uncertain significance not provided 2022-03-30 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
PreventionGenetics, part of Exact Sciences RCV003955565 SCV004773449 likely benign DNAH11-related condition 2023-03-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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