ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)

gnomAD frequency: 0.00034  dbSNP: rs142166552
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
GeneDx RCV000676548 SCV000252265 uncertain significance not provided 2024-02-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624942 SCV000743150 likely benign Biotin-responsive basal ganglia disease 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624942 SCV000744176 likely benign Biotin-responsive basal ganglia disease 2015-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000624942 SCV000824873 likely benign Biotin-responsive basal ganglia disease 2024-01-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676548 SCV000802333 uncertain significance not provided 2016-02-26 no assertion criteria provided 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.