ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3241A>G (p.Met1081Val) (rs16902880)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155512 SCV000205211 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Met1081Val in exon 21 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 4.1% (181/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs16902880).
PreventionGenetics,PreventionGenetics RCV000155512 SCV000307742 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665925 SCV000453241 likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000387977 SCV000558035 benign Primary ciliary dyskinesia 2020-11-25 criteria provided, single submitter clinical testing
Counsyl RCV000665925 SCV000790133 likely benign Ciliary dyskinesia, primary, 3 2017-03-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000387977 SCV001458408 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.