ClinVar Miner

Variants studied for congenital myopathy

Included ClinVar conditions (85):
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
1039 513 6209 2573 1830 14 10458

Gene and significance breakdown #

Total genes and gene combinations: 62
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NEB 227 189 1358 1051 159 1 2751
TTN 28 18 1575 400 1063 7 2003
NEB, RIF1 90 87 342 230 32 0 708
RYR1 102 46 387 147 89 4 681
MEGF10 14 5 357 73 42 0 454
CLCN1 116 20 232 80 32 0 445
MTM1 144 38 48 43 22 0 287
STIM1 10 1 172 60 18 0 258
BIN1 7 5 183 60 19 1 252
SELENON 43 17 114 34 20 0 224
TPM3 17 7 143 33 22 0 205
ACTA1 67 29 86 24 15 0 204
KLHL40 13 8 133 35 17 0 203
CCDC78 1 1 137 41 14 0 194
CNTN1 6 1 120 47 16 0 190
LMOD3 12 2 112 38 22 0 184
MYH7 19 15 95 35 49 1 168
GH-LCR, SCN4A 6 1 110 6 35 0 157
DNM2 11 3 55 9 42 0 117
TNNT1 7 5 69 20 6 0 102
ORAI1 5 1 60 26 8 0 100
KLHL41 12 0 52 23 10 0 97
STAC3 8 0 58 16 6 0 87
CFL2 5 0 44 12 10 0 70
SCN4A 4 2 45 5 12 0 65
MHRT, MYH7 20 0 22 3 10 0 47
TPM2 8 2 16 4 8 0 38
MYF6 1 0 22 8 2 0 32
LOC101927055, TTN 0 0 13 4 19 0 26
MYO18B 4 5 13 0 0 0 21
SPEG 3 1 10 0 0 0 14
ASIC4, SPEG 2 1 8 0 0 0 11
FHL1 9 1 0 0 0 0 10
​intergenic 8 0 0 0 0 0 8
CCDC174 1 0 4 0 0 0 5
MTMR14 0 1 3 1 0 0 5
TNNI3, TNNT1 2 0 0 2 1 0 5
BIN1, LOC112806045 0 0 3 0 0 0 3
FXR1 0 0 3 0 0 0 3
MAP3K20 3 0 0 0 0 0 3
MYL1 2 1 0 0 0 0 2
ANTXR2 0 0 0 0 1 0 1
ARL5A, CACNB4, NEB 1 0 0 0 0 0 1
ATP13A4 0 0 0 0 1 0 1
ATP6V0A4 0 0 0 0 1 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 1
CLN8 0 0 0 0 1 0 1
CRX 0 0 0 0 1 0 1
CYP1B1 0 0 1 0 0 0 1
DNA2 0 0 1 0 0 0 1
DNAAF3, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 1
INSR 0 0 0 1 0 0 1
LOC112081391, STIM1 1 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 1
MEFV 0 0 0 0 1 0 1
MVK 0 0 0 0 1 0 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 1
MYOD1 1 0 0 0 0 0 1
NF1 0 0 0 0 1 0 1
PPT1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 532 138 2866 1821 379 0 5736
Illumina Clinical Services Laboratory,Illumina 5 4 2809 726 1501 0 3800
Natera, Inc. 11 6 424 107 86 0 634
Counsyl 22 203 118 13 0 0 356
Baylor Genetics 37 18 183 0 0 0 238
Fulgent Genetics,Fulgent Genetics 27 7 177 0 0 0 211
OMIM 205 0 1 0 0 0 206
Genetic Services Laboratory, University of Chicago 136 22 13 0 0 0 171
GeneReviews 160 0 1 0 7 0 168
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 18 48 0 2 0 76
Broad Institute Rare Disease Group, Broad Institute 2 11 13 1 9 0 36
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 5 22 1 0 0 34
Mendelics 10 9 4 0 8 0 31
Institute of Human Genetics, Klinikum rechts der Isar 22 3 0 0 0 0 25
Pediatric Department, Peking University First Hospital 12 8 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 5 3 11 0 1 0 20
Athena Diagnostics Inc 0 0 0 0 17 0 17
Neurogenetics Laboratory,Royal Perth Hospital 15 0 0 0 0 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 12 0 2 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 1 0 13 0 0 0 14
CSER _CC_NCGL, University of Washington 0 0 9 5 0 0 14
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 7 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 14 14
Center for Genetic Medicine Research,Children's National Medical Center 0 10 0 0 0 0 10
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 3 5 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 4 0 0 0 0 9
NeuroMeGen,Hospital Clinico Santiago de Compostela 1 8 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 4 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 3 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 7 1 0 0 0 8
Myriad Women's Health, Inc. 0 8 0 0 0 0 8
Division of Human Genetics,Children's Hospital of Philadelphia 2 2 3 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 4 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 4 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 3 3 0 0 0 0 6
Centogene AG - the Rare Disease Company 2 3 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 2 2 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 2 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 0 3 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 1 1 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 0 2
Biochimie Génétique et moléculaire, CHUGA 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 2 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 2 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 1 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1
Laboratory of Molecular Regulation of Neurogenesis,University of Liege 1 0 0 0 0 0 1

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