ClinVar Miner

Variants studied for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
13 0 8 2 3 2 27

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
B4GALT7 7 3 1 2 2 14
B3GALT6 6 5 1 1 0 13

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign not provided total
OMIM 13 0 0 0 0 13
Invitae 0 5 1 1 0 7
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 2 0 3
Fulgent Genetics 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 1

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.