ClinVar Miner

Variants studied for congenital myotonia

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 total
125 28 567 124 133 937

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
CLCN1 116 20 232 80 32 445
HSPG2 9 7 299 37 88 435
HSPG2, LDLRAD2 0 0 36 7 13 56
SCN4A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 5 0 350 65 129 549
Invitae 90 10 199 66 18 383
GeneReviews 27 0 0 0 0 27
OMIM 26 0 0 0 0 26
Baylor Genetics 4 2 6 0 0 12
Fulgent Genetics,Fulgent Genetics 5 0 7 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 4 4 0 0 12
Mendelics 2 2 2 2 2 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 8 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 1 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Neurology Laboratory,National Cheng Kung University Hospital 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1
Laboratory of Molecular Regulation of Neurogenesis,University of Liege 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.