ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)

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 RCV002756628 SCV003021876 likely benign Primary ciliary dyskinesia 2023-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002756628 SCV003867180 uncertain significance Primary ciliary dyskinesia 2023-02-26 criteria provided, single submitter clinical testing The p.I2070M variant (also known as c.6210T>G), located in coding exon 37 of the DNAH11 gene, results from a T to G substitution at nucleotide position 6210. The isoleucine at codon 2070 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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.