ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.178G>A (p.Glu60Lys)

gnomAD frequency: 0.00227  dbSNP: rs199980106
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550707 SCV000640960 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000608911 SCV000718952 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003915558 SCV004744713 benign DOK7-related disorder 2019-05-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.