ClinVar Miner

Variants studied for myotonic syndrome

Included ClinVar conditions (13):
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 other not provided total
217 24 421 105 125 1 4 858

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GH-LCR, SCN4A 23 15 262 68 75 0 3 419
SCN4A 6 8 144 35 31 0 1 215
DM1, DMPK, LOC107075317, LOC109461477 176 0 0 0 12 0 0 187
DMPK 5 1 7 0 2 0 0 15
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040 5 0 0 0 3 1 0 8
DM1, DMPK, LOC107075317 0 0 2 1 0 0 0 3
​intergenic 1 0 0 0 1 0 0 2
CNBP 0 0 1 0 1 0 0 2
DM1, DMPK, LOC107075317, LOC129929041 0 0 1 1 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929042 0 0 2 0 0 0 0 2
CNBP, LOC108644431 1 0 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 1
RANBP2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Fulgent Genetics, Fulgent Genetics 12 14 329 67 1 0 0 423
Illumina Laboratory Services, Illumina 0 0 72 39 106 0 0 204
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146 0 0 0 0 0 0 146
Neuromuscular Research, Maastricht University Medical Centre 48 0 0 0 14 0 0 61
OMIM 19 0 0 0 0 0 0 19
MGZ Medical Genetics Center 4 2 7 0 0 0 0 13
Revvity Omics, Revvity 0 0 8 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 4 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 1 0 0 0 5
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute 4 1 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 0 4
GeneReviews 1 0 0 0 2 0 0 3
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 1 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Medical Genetics Section, University of Rome Tor Vergata 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Department of Neuromuscular Diseases, Third Hospital of Hebei Medical University 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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