ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) (rs72654356)

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
Illumina Clinical Services Laboratory,Illumina RCV000382570 SCV000395932 likely benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286095 SCV000395933 likely benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343345 SCV000395934 likely benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000912484 SCV001057593 likely benign not provided 2018-09-13 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.