ClinVar Miner

Variants in gene ADAMTS17

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
10 0 238 50 104 390

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign total
Weill-Marchesani syndrome 4 5 227 30 89 349
not provided 4 10 18 22 54
See cases 0 2 3 0 5
Anterior segment dysgenesis 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 223 30 89 341
Invitae 1 1 14 16 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 10 10
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 3 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 6 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 6 0 0 6
OMIM 5 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 1 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 1 2 0 3
Lineagen, Inc 3 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2 0 0 2
ISCA site 1 0 1 1 0 2
Baylor Genetics 0 1 0 0 1
Eye Genetics Research Group,Children's Medical Research Institute 1 0 0 0 1
Nilou-Genome Lab 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.