ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)

gnomAD frequency: 0.44667  dbSNP: rs2285944
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079615 SCV000111498 benign not specified 2013-10-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403909 SCV000468029 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079615 SCV000711295 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu34Val in exon 1 of DNAH11: This variant is not expected to have clinical sign ificance because it has been identified in 45.1% (3331/7390) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs2285944).
GeneDx RCV001610360 SCV001834365 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664270 SCV001875553 benign Primary ciliary dyskinesia 7 2021-07-30 criteria provided, single submitter clinical testing
Invitae RCV000403909 SCV004682361 benign Primary ciliary dyskinesia 2023-12-19 criteria provided, single submitter clinical testing

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