ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=)

gnomAD frequency: 0.11781  dbSNP: rs2072220
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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, Mass General Brigham Personalized Medicine RCV000150440 SCV000197626 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu2524Leu in exon 46 of DNAH11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 22.3% (860/3850) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2072220).
PreventionGenetics, part of Exact Sciences RCV000150440 SCV000307573 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346440 SCV000468148 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000346440 SCV001000499 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001705975 SCV001889276 benign not provided 2018-12-31 criteria provided, single submitter clinical testing

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