ClinVar Miner

Variants studied for Aspartylglucosaminuria

Coded as:
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 45 82 69 20 208

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
AGA 28 45 81 69 20 207
AGA, AGA-DT 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 4 15 61 18 115
Illumina Clinical Services Laboratory,Illumina 0 0 53 4 3 60
Counsyl 1 27 3 2 0 33
Natera, Inc. 0 0 20 3 4 27
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 21 0 0 0 21
OMIM 10 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 2 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Baylor Genetics 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
Nilou-Genome Lab 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.