ClinVar Miner

Variants studied for congenital muscular dystrophy

Included ClinVar conditions (82):
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
419 325 2068 544 436 15 3702

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL6A3 24 15 325 97 89 0 548
COL12A1 12 5 245 53 43 0 355
COL6A2 35 18 188 72 38 2 347
COL6A1 30 18 138 55 49 0 284
LAMA2 37 83 95 21 16 6 250
FKTN 16 23 143 20 11 0 200
ITGA7 7 5 97 23 26 1 158
POMGNT1, TSPAN1 19 70 63 11 5 0 155
FKRP 22 7 83 25 12 0 146
LARGE1 13 1 91 33 21 0 144
POMT1 31 7 65 18 22 0 140
POMT2 23 8 79 11 15 3 135
DAG1 7 1 71 19 10 0 107
SELENON 25 9 51 5 15 0 102
POMGNT2 6 1 63 14 10 0 94
CRPPA 27 8 34 6 12 0 85
GMPPB 17 7 33 8 3 0 64
B3GALNT2 12 9 32 10 4 0 60
CHKB, CHKB-CPT1B 10 2 30 8 5 0 54
LMNA 8 7 22 12 4 2 54
RXYLT1 9 5 23 5 7 0 46
POMK 7 0 21 11 6 0 44
B4GAT1 2 1 25 2 4 0 33
POMGNT1 2 8 18 3 1 0 31
DPM2 2 0 8 1 4 0 15
DPM3 2 0 8 1 1 1 11
B3GALNT2, TBCE 1 1 7 0 0 0 9
INPP5K 7 0 0 0 0 0 7
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
ACKR3, COL6A3, COPS8, LOC110121230, LOC112840913, LOC93463 0 0 1 0 0 0 1
AK1, C9orf16, CDK9, CFAP157, CIZ1, DPM2, ENG, FAM102A, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 1
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 1
CAPN3, SGCB 1 0 0 0 0 0 1
FKBP14 1 0 0 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
TRIP4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 189 78 1763 484 391 0 2904
Counsyl 23 139 93 23 0 0 278
OMIM 191 0 1 0 0 0 192
Illumina Clinical Services Laboratory,Illumina 0 0 125 32 6 0 163
Fulgent Genetics,Fulgent Genetics 13 5 88 0 0 0 106
Genomic Research Center,Shahid Beheshti University of Medical Sciences 6 13 24 2 0 0 45
Athena Diagnostics Inc 0 0 0 0 41 0 41
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 37
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 19 0 20
GenomeConnect, ClinGen 0 0 0 0 0 14 14
Baylor Genetics 4 1 6 1 0 0 12
Genetic Services Laboratory, University of Chicago 5 7 0 0 0 0 12
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 8 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 4 0 0 0 9
Center for Genetic Medicine Research,Children's National Medical Center 0 8 0 0 0 0 8
Broad Institute Rare Disease Group,Broad Institute 1 4 3 0 0 0 8
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 4 1 0 0 0 7
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 2 4 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 2 0 0 0 6
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 6 0 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 4 0 0 0 0 5
GeneReviews 5 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 3 2 0 0 0 0 5
Undiagnosed Diseases Network,NIH 1 4 0 0 0 0 5
Mendelics 1 1 2 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 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
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 1 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory,M Health: 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
Hehr Laboratory,Center for Human Genetics - University of Regensburg 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 2
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Marco Cassone, private practice 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
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
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
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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1

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