ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)

dbSNP: rs80338767
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020639 SCV000041160 not provided Cutis laxa, autosomal recessive, type 1A no assertion provided literature only
OMIM RCV000020639 SCV000056905 pathogenic Cutis laxa, autosomal recessive, type 1A 2013-01-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447087 SCV004174387 uncertain significance Cutis laxa, autosomal dominant 2016-01-06 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.