ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.957C>G (p.Pro319=)

gnomAD frequency: 0.00016  dbSNP: rs777573281
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
Eurofins Ntd Llc (ga) RCV000733469 SCV000861543 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855782 SCV002201050 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975287 SCV004794450 likely benign DOK7-related disorder 2019-03-26 no assertion criteria provided clinical testing This variant is classified as likely 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.