ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.830G>A (p.Ser277Asn)

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
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences RCV001250794 SCV001244262 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2019-07-05 criteria provided, single submitter research
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001250794 SCV001250613 uncertain significance Galactosylceramide beta-galactosidase deficiency no assertion criteria provided 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.