ClinVar Miner

Submissions for variant NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=)

gnomAD frequency: 0.29156  dbSNP: rs3732449
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 RCV001511478 SCV001718731 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810051 SCV002056786 benign Retinitis pigmentosa 68 2021-07-15 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888241 SCV004705721 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001511478 SCV005306251 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.