ClinVar Miner

Submissions for variant NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) (rs151344624)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000177757 SCV000678158 pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 2015-04-16 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000201913 SCV000256808 pathogenic not provided 2015-10-07 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000201913 SCV000229685 pathogenic not provided 2014-06-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177757 SCV000592980 pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 2015-10-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587070 SCV000696588 pathogenic Familial hyperinsulinism 2016-01-21 criteria provided, single submitter clinical testing
OMIM RCV000177757 SCV000029878 pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 1996-11-01 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.