ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)

gnomAD frequency: 0.00297  dbSNP: rs143324306
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192681 SCV000246336 benign not specified 2017-02-13 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000192681 SCV000317014 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001086483 SCV000653881 benign Congenital myasthenic syndrome 8 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761626 SCV000891796 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing AGRN: BS2
GeneDx RCV000761626 SCV002575218 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000761626 SCV001799260 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000761626 SCV001929115 likely benign not provided 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.