ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.1027G>C (p.Gly343Arg)

gnomAD frequency: 0.00163  dbSNP: rs113733057
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000963803 SCV001110978 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000963803 SCV005248983 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700954 SCV001922216 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700954 SCV001971790 benign not specified 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.