ClinVar Miner

Submissions for variant NM_020159.5(SMARCAD1):c.1281+666T>C

dbSNP: rs1114167276
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
OMIM RCV000167534 SCV000218392 pathogenic Adermatoglyphia 2014-12-01 no assertion criteria provided literature only
OMIM RCV000761203 SCV000891119 pathogenic Keratoderma with scleroatrophy of the extremities 2014-12-01 no assertion criteria provided literature only

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.