ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) (rs250563)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713390 SCV000843990 benign not provided 2017-09-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330995 SCV000395865 benign Bronchiectasis with or without elevated sweat chloride 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385491 SCV000395866 benign Pseudohypoaldosteronism type 1 autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291151 SCV000395867 benign Pseudoprimary hyperaldosteronism 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155570 SCV000205272 benign not specified 2013-10-18 criteria provided, single submitter clinical testing Phe293Phe in exon 05 of SCNN1B: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not predicted to alter splicing (0/5 programs). It has been identified in 20% (915/4394) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs250563).
PreventionGenetics RCV000155570 SCV000303681 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.