ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)

gnomAD frequency: 0.00010  dbSNP: rs146177203
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223571 SCV000272419 uncertain significance not specified 2018-02-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Fulgent Genetics, Fulgent Genetics RCV002478772 SCV002789178 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2021-11-03 criteria provided, single submitter 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.