ClinVar Miner

Variants studied for cystinosis

Included ClinVar conditions (5):
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
65 44 125 36 55 305

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CTNS 64 44 118 36 51 293
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 10
CTNS, SHPK, TRPV1 1 0 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 105 12 44 161
Invitae 35 3 8 22 11 79
Counsyl 8 34 13 2 1 58
OMIM 16 0 0 0 0 16
GeneReviews 16 0 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 8 3 0 0 0 11
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 5 0 0 0 0 5
Institute of Human Genetics,Cologne University 0 1 2 0 0 3
Mendelics 2 0 0 1 0 3
Baylor Genetics 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 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.