ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) (rs115109673)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000513854 SCV000287094 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000247957 SCV000307807 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513854 SCV000610697 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000247957 SCV000966297 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu2235Val in exon 41 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 3.0% (132/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs115109673).

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.