ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)

gnomAD frequency: 0.00255  dbSNP: rs139521179
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381277 SCV000341074 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing
Invitae RCV001084725 SCV000655550 likely benign Congenital myasthenic syndrome 15 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000381277 SCV001794733 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820828 SCV002066000 uncertain significance not specified 2019-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000381277 SCV002544295 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ALG14: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003949894 SCV004770412 likely benign ALG14-related disorder 2021-02-11 criteria provided, single submitter 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.