ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter)

gnomAD frequency: 0.00004  dbSNP: rs121434347
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
Fulgent Genetics, Fulgent Genetics RCV002482814 SCV002790681 pathogenic Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-02-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000002097 SCV003804728 pathogenic Neutral 1 amino acid transport defect 2023-01-26 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP
OMIM RCV000002097 SCV000022255 pathogenic Neutral 1 amino acid transport defect 2004-09-01 no assertion criteria provided literature only

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.