ClinVar Miner

Variants studied for Bethlem myopathy

Included ClinVar conditions (15):
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
374 168 3148 3915 770 41 8251

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL12A1 53 24 1228 1186 131 18 2589
COL6A3 79 36 987 1254 246 9 2563
COL6A2 129 59 559 730 112 8 1564
COL6A1 96 42 302 670 262 6 1347
COL12A1, LOC126859712 1 0 35 32 5 0 73
COL6A3, LOC126806573 1 0 19 32 5 0 57
COL6A3, LOC122889011 11 6 10 8 1 0 35
COL6A2, FTCD 0 0 0 1 7 0 7
COL12A1, LOC129996730 1 1 2 2 0 0 6
COL6A1, COL6A2, COL6A2-DT, LOC121853033, LOC130066866 1 0 2 0 0 0 3
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 2
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 1
ACKR3, COL6A3, COPS8, COPS8-DT, LOC110121230, LOC112840913, LOC122889010, LOC122889011, LOC126806571, LOC126806572, LOC126806573, LOC129935916, LOC129935917, LOC93463 0 0 1 0 0 0 1
CLCN5 0 0 0 0 1 0 1
COL6A2, LOC121853033 0 0 1 0 0 0 1
COL6A3, MLPH 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 348 117 3029 3889 756 0 8139
Fulgent Genetics, Fulgent Genetics 1 2 50 34 2 0 89
Genome-Nilou Lab 0 0 0 0 41 0 41
Mendelics 8 5 5 1 9 0 28
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 22 22
Athena Diagnostics Inc 0 0 0 0 21 0 21
MGZ Medical Genetics Center 1 7 12 0 0 0 20
OMIM 19 0 0 0 0 0 19
Baylor Genetics 1 2 13 0 0 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 8 0 0 0 13
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 10 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 12 12
3billion 4 3 3 0 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 9 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 2 0 8
GeneReviews 0 0 0 0 0 7 7
Institute of Human Genetics, University of Leipzig Medical Center 0 1 5 0 1 0 7
Genetics and Molecular Pathology, SA Pathology 0 0 6 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 3 2 0 0 0 6
Centogene AG - the Rare Disease Company 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 1 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 2 0 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 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 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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