ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1173-4A>T

dbSNP: rs367737262
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595717 SCV000703529 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085436 SCV001030187 likely benign Biotin-responsive basal ganglia disease 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532420 SCV003550556 uncertain significance Inborn genetic diseases 2021-12-21 criteria provided, single submitter clinical testing The c.1173-4A>T intronic alteration consists of a A to T substitution 4 nucleotides before coding exon 4 in the SLC19A3 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.