ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5136+68_5136+73delinsT

dbSNP: rs1839542247
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328773 SCV001519969 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2019-10-31 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. Although autosomal recessive inheritance is not well established for EDSCL1, a Saudi patient harboring the same homozygous variant has been reported [PMID: 29250776]

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.