ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=)

gnomAD frequency: 0.00047  dbSNP: rs200124872
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001171973 SCV000533168 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Invitae RCV003891269 SCV001031393 likely benign Ehlers-Danlos syndrome progeroid type 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171973 SCV001334896 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932675 SCV004748494 benign B4GALT7-related condition 2019-06-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.