ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)

gnomAD frequency: 0.00011  dbSNP: rs749126116
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174718 SCV000226075 uncertain significance not provided 2014-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000820524 SCV000961240 benign Primary ciliary dyskinesia 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000820524 SCV002718096 uncertain significance Primary ciliary dyskinesia 2023-12-15 criteria provided, single submitter clinical testing The c.1955G>A (p.S652N) alteration is located in exon 14 (coding exon 14) of the DNAH5 gene. This alteration results from a G to A substitution at nucleotide position 1955, causing the serine (S) at amino acid position 652 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000820524 SCV001462735 uncertain significance Primary ciliary dyskinesia 2019-10-28 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.