ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12052G>A (p.Val4018Ile)

dbSNP: rs578153138
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001320446 SCV001511231 benign Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001320446 SCV005109640 uncertain significance Primary ciliary dyskinesia 2024-05-20 criteria provided, single submitter clinical testing The c.12052G>A (p.V4018I) alteration is located in exon 74 (coding exon 74) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 12052, causing the valine (V) at amino acid position 4018 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.