ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.-36C>A

dbSNP: rs886061743
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 Laboratory Services, Illumina RCV000261550 SCV000464809 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319184 SCV000464810 uncertain significance Woolly hair-skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371500 SCV000464811 uncertain significance Lethal acantholytic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279362 SCV000464812 uncertain significance Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 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.