ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) (rs139160176)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155516 SCV000205215 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Asn549Lys in exon 13 of DNAH5: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (136/8580) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs139160176).
Invitae RCV000227111 SCV000287065 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000155516 SCV000307718 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000665926 SCV000790134 likely benign Ciliary dyskinesia, primary, 3 2017-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665926 SCV001316471 benign Ciliary dyskinesia, primary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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.