ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.490+9A>T

dbSNP: rs1465424178
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505949 SCV000603426 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV001480905 SCV001685236 likely benign Cutis laxa, autosomal recessive, type 1B 2018-12-15 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.