ClinVar Miner

Variants studied for contracture

Included ClinVar conditions (7):
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
186 87 1937 833 259 5 3279

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL6A3 43 23 649 300 103 1 1110
COL12A1 22 7 649 198 53 1 927
COL6A2 62 36 366 191 48 3 695
COL6A1 57 21 269 144 51 0 537
COL6A1, COL6A2 1 0 2 0 0 0 3
COL6A2, FTCD 0 0 0 0 3 0 3
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 2
ACKR3, COL6A3, COPS8, LOC110121230, LOC112840913, LOC93463 0 0 1 0 0 0 1
CLCN5 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 163 64 1903 832 244 0 3206
Fulgent Genetics,Fulgent Genetics 0 0 26 0 0 0 26
Mendelics 5 6 4 1 9 0 25
Athena Diagnostics Inc 0 0 0 0 21 0 21
OMIM 17 0 0 0 0 0 17
Baylor Genetics 2 2 10 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 8 0 0 0 13
GeneReviews 7 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 1 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 2 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Molecular Biology Laboratory,Virgen Macarena University Hospital 0 1 0 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.