ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=)

gnomAD frequency: 0.30832  dbSNP: rs6554812
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150468 SCV000197654 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu3380Glu in exon 60 of DNAH5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 36.3% (1601/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6554812).
PreventionGenetics, part of Exact Sciences RCV000150468 SCV000307659 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095008 SCV000453059 benign Primary ciliary dyskinesia 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000288079 SCV001000244 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095008 SCV001738599 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095008 SCV001875591 benign Primary ciliary dyskinesia 3 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001705989 SCV001914089 benign not provided 2019-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000288079 SCV002631398 benign Primary ciliary dyskinesia 2014-12-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001705989 SCV005306000 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000288079 SCV001452267 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.