ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.990C>T (p.Leu330=) (rs376448045)

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
PreventionGenetics,PreventionGenetics RCV000248750 SCV000307610 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000553345 SCV000624190 likely benign not provided 2018-04-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000248750 SCV000967211 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu330Leu in exon 6 of DNAH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/8168 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV001429513 SCV001632228 likely benign Primary ciliary dyskinesia 2018-03-28 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.