ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10545A>G (p.Lys3515=) (rs727502972)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150466 SCV000197652 likely benign not specified 2014-04-24 criteria provided, single submitter clinical testing Lys3515Lys in exon 62 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.
Invitae RCV000534814 SCV000624194 likely benign Primary ciliary dyskinesia 2017-03-09 criteria provided, single submitter 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.