ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8794T>G (p.Ser2932Ala)

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
Ambry Genetics RCV003534977 SCV003719825 uncertain significance Primary ciliary dyskinesia 2021-06-11 criteria provided, single submitter clinical testing The c.8794T>G (p.S2932A) alteration is located in exon 53 (coding exon 53) of the DNAH11 gene. This alteration results from a T to G substitution at nucleotide position 8794, causing the serine (S) at amino acid position 2932 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534977 SCV004270098 benign Primary ciliary dyskinesia 2024-01-04 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.