ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1104T>C (p.Asn368=)

gnomAD frequency: 0.00001  dbSNP: rs767338710
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506666 SCV001711595 likely benign Biotin-responsive basal ganglia disease 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434297 SCV004151557 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SLC19A3: BP4, BP7

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.