ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.663+48C>T

gnomAD frequency: 0.38844  dbSNP: rs13180809
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
GeneDx RCV001597358 SCV001830042 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810109 SCV002056586 benign Neutral 1 amino acid transport defect 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810110 SCV002056598 benign Hyperglycinuria 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597358 SCV005304961 benign not provided criteria provided, single submitter not provided

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.