ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11271C>G (p.Ile3757Met)

gnomAD frequency: 0.00001  dbSNP: rs757371608
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 RCV000694409 SCV000822854 benign Primary ciliary dyskinesia 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000694409 SCV004071159 uncertain significance Primary ciliary dyskinesia 2023-06-29 criteria provided, single submitter clinical testing The c.11271C>G (p.I3757M) alteration is located in exon 69 (coding exon 69) of the DNAH11 gene. This alteration results from a C to G substitution at nucleotide position 11271, causing the isoleucine (I) at amino acid position 3757 to be replaced by a methionine (M). 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.