ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)

dbSNP: rs1554768224
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662036 SCV000784372 uncertain significance Charcot-Marie-Tooth disease type 4K 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662037 SCV000784373 uncertain significance Leigh syndrome 2018-03-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090695 SCV001246375 pathogenic not provided 2018-03-01 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.