ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)

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
Baylor Genetics RCV004566585 SCV005049765 likely pathogenic Seizures, benign familial infantile, 5 2024-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566584 SCV005049824 likely pathogenic Developmental and epileptic encephalopathy, 13 2024-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566586 SCV005049849 likely pathogenic Myoclonus, familial, 2 2024-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566583 SCV005049888 likely pathogenic Cognitive impairment with or without cerebellar ataxia 2024-01-16 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.