ClinVar Miner

Variants studied for arterial calcification of infancy

Included ClinVar conditions (4):
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 total
28 8 116 21 66 234

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ENPP1 16 5 111 21 66 214
ABCC6 12 3 5 0 0 20

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 1 107 21 62 192
OMIM 21 0 0 0 1 22
Baylor Genetics 2 0 6 0 0 8
Fulgent Genetics,Fulgent Genetics 5 0 1 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 1 0 0 6
GeneReviews 1 0 0 0 3 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 2 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 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.