ClinVar Miner

Variants studied for Bethlem myopathy

Included ClinVar conditions (6):
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
88 54 889 67 53 2 1144

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL6A3 23 19 323 29 28 0 418
COL12A1 11 3 244 15 2 0 273
COL6A2 25 18 186 15 6 2 251
COL6A1 28 14 133 8 16 0 197
COL6A1, COL6A2 1 0 2 0 0 0 3
ACKR3, COL6A3, COPS8, LOC110121230, LOC112840913, LOC93463 0 0 1 0 0 0 1
COL6A2, FTCD 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 33 868 66 31 0 1065
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 8 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 1 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

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.