ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.751-8_751-6del

dbSNP: rs765948340
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
Invitae RCV000473684 SCV000554241 likely benign Developmental and epileptic encephalopathy, 36 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001712421 SCV000572259 likely benign not provided 2023-03-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Athena Diagnostics Inc RCV000486646 SCV001476896 benign not specified 2020-08-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000473684 SCV002524907 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter 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.