ClinVar Miner

Variants studied for congenital muscular dystrophy

Included ClinVar conditions (84):
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
680 515 4526 1715 568 18 7785

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL6A3 46 24 655 301 103 1 1119
COL12A1 25 10 653 199 53 1 936
COL6A2 75 41 371 191 48 3 713
COL6A1 60 25 275 144 51 0 547
FKTN 36 25 243 77 24 0 382
LAMA2 54 165 121 22 19 6 373
POMT2 30 13 237 60 33 2 358
POMGNT1, TSPAN1 30 83 162 102 9 0 346
FKRP 44 13 192 86 11 0 342
ITGA7 17 6 206 63 30 2 323
POMT1 35 20 187 65 38 0 319
LARGE1 20 2 177 65 36 0 285
SELENON 43 16 114 34 20 0 223
DAG1 11 1 155 44 12 0 220
POMGNT2 10 2 136 57 11 0 215
CRPPA 34 9 85 25 13 0 163
CHKB, CHKB-CPT1B 14 3 96 29 14 0 143
B3GALNT2 16 11 83 29 4 0 135
GMPPB 21 12 68 30 4 0 129
POMK 11 0 61 28 7 0 103
POMGNT1 5 12 57 19 2 0 91
LMNA 8 8 44 10 7 2 78
B4GAT1 2 1 41 21 5 0 69
DPM2 4 1 39 8 6 0 55
RXYLT1 8 4 18 2 2 0 31
DPM3 5 1 17 1 2 1 24
B3GALNT2, TBCE 1 1 11 3 0 0 16
INPP5K 7 0 2 0 0 0 9
RYR1 0 2 2 0 0 0 4
TTN 0 4 0 0 0 0 4
COL6A1, COL6A2 1 0 2 0 0 0 3
COL6A2, FTCD 0 0 0 0 3 0 3
TRIP4 1 0 2 0 0 0 3
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 2
CELSR1 0 0 2 0 0 0 2
CHKB 0 0 2 0 0 0 2
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 1
ACKR3, COL6A3, COPS8, LOC110121230, LOC112840913, LOC93463 0 0 1 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, ENG, FAM102A, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 1
AMT, C3orf62, C3orf84, CCDC71, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 1
CAPN3 1 0 0 0 0 0 1
CLCN5 0 0 0 0 1 0 1
FKBP14 1 0 0 0 0 0 1
FKRP, STRN4 0 0 1 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 1
FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 1
NEB 0 0 1 0 0 0 1
NEB, RIF1 0 0 1 0 0 0 1
SYNE1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 414 153 3836 1617 446 0 6466
Illumina Clinical Services Laboratory,Illumina 1 0 446 64 89 0 600
Counsyl 24 147 95 23 0 0 289
OMIM 192 0 1 0 0 0 193
Baylor Genetics 21 9 96 1 0 0 127
Fulgent Genetics,Fulgent Genetics 13 5 88 0 0 0 106
Myriad Women's Health, Inc. 2 69 0 0 0 0 71
Mendelics 18 13 7 6 18 0 62
Natera, Inc. 5 1 34 9 6 0 55
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 10 26 2 0 0 47
Athena Diagnostics Inc 0 0 0 0 40 0 40
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 7 24 0 1 0 40
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 37
Broad Institute Rare Disease Group, Broad Institute 4 6 9 1 3 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 19 0 20
GenomeConnect, ClinGen 0 0 0 0 0 17 17
Genetic Services Laboratory, University of Chicago 6 7 0 0 0 0 13
GeneReviews 12 0 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 3 5 1 1 0 12
Mayo Clinic Laboratories, Mayo Clinic 2 0 8 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 5 4 0 0 0 0 9
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 4 2 0 0 0 9
Center for Genetic Medicine Research,Children's National Medical Center 0 8 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 3 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 4 2 0 0 0 8
Undiagnosed Diseases Network,NIH 2 5 1 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 4 0 0 0 7
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 2 2 0 0 0 6
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 6 0 0 0 0 6
Centogene AG - the Rare Disease Company 3 2 0 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 2 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 3 2 0 0 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 4 0 0 0 4
GeneDx 0 0 1 0 2 0 3
Institute of Human Genetics,Cologne University 2 1 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 0 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 0 0 0 0 0 3
Breda Genetics srl 1 1 1 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Neurology Department,Peking University First Hospital 1 1 0 0 0 0 2
Kasturba Medical College, Manipal University 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 1 0 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Marco Cassone, Clinical geneticist 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Institute of Cell Biology and Neurobiology,Charite - Universitaetsmedizin Berlin 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 1 0 0 0 0 0 1
Cardiogenetic Laboratory,Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Biology Laboratory,Virgen Macarena University Hospital 0 1 0 0 0 0 1

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