ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.161G>A (p.Arg54His)

dbSNP: rs201818140
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) RCV000329116 SCV000337970 uncertain significance not provided 2015-12-24 criteria provided, single submitter clinical testing
Invitae RCV001088526 SCV000640958 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000329116 SCV003832195 benign not provided 2023-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362744 SCV004056130 uncertain significance Inborn genetic diseases 2023-07-05 criteria provided, single submitter clinical testing The c.161G>A (p.R54H) alteration is located in exon 3 (coding exon 3) of the DOK7 gene. This alteration results from a G to A substitution at nucleotide position 161, causing the arginine (R) at amino acid position 54 to be replaced by a histidine (H). 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.