ClinVar Miner

Submissions for variant NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)

gnomAD frequency: 0.00272  dbSNP: rs150357327
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292584 SCV000337371 likely benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Invitae RCV000898874 SCV001043108 benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000292584 SCV001476116 benign not specified 2020-02-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502118 SCV002804454 likely benign Episodic ataxia type 6 2022-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000898874 SCV004160856 benign not provided 2022-04-01 criteria provided, single submitter clinical testing SLC1A3: BS1, BS2

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.