ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) (rs5738)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713392 SCV000843993 benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334111 SCV000395722 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388570 SCV000395723 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000009377 SCV000029595 pathogenic Bronchiectasis with or without elevated sweat chloride 3 2008-05-28 no assertion criteria provided literature only
PreventionGenetics RCV000250994 SCV000306099 benign not specified 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.