ClinVar Miner

Variants studied for Bethlem myopathy

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
466 235 4051 4686 824 53 10092

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL12A1 70 43 1646 1488 146 26 3350
COL6A3 104 41 1265 1446 250 9 3055
COL6A2 155 76 668 850 124 8 1833
COL6A1 117 62 379 816 292 9 1631
COL12A1, LOC126859712 1 1 50 34 5 1 91
COL6A3, LOC126806573 1 0 20 36 5 0 62
COL6A3, LOC122889011 12 6 10 14 1 0 42
COL12A1, LOC129996730 1 1 5 2 0 0 9
COL6A1, COL6A2, COL6A2-DT, LOC121853033, LOC130066866 1 0 2 0 0 0 3
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 2
COL6A2, FTCD 1 0 1 0 0 0 2
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DRC11, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, IFT54, ILKAP, ING5, 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, TWIST2, UBE2F 1 0 0 0 0 0 1
ACKR3, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, IFT54, ILKAP, ING5, 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, 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
COL12A1, COX7A2, FILIP1, IMPG1, MYO6, SENP6, TMEM30A 0 0 1 0 0 0 1
COL4A2 0 1 0 0 0 0 1
COL6A2, LOC121853033 0 0 1 0 0 0 1
COL6A3, MLPH 0 0 1 0 0 0 1
DMPK 0 1 0 0 0 0 1
LMNA 0 1 0 0 0 0 1
NOG 0 1 0 0 0 0 1
SLC7A9 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 428 139 3879 4659 808 0 9913
Fulgent Genetics, Fulgent Genetics 1 4 69 35 2 0 111
Genome-Nilou Lab 0 0 0 0 41 0 41
3billion 15 10 8 0 0 0 33
Mendelics 8 5 8 1 9 0 31
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 29 29
Neuberg Centre For Genomic Medicine, NCGM 2 3 18 0 0 0 23
OMIM 22 0 0 0 0 0 22
MGZ Medical Genetics Center 1 7 12 0 0 0 20
Baylor Genetics 1 2 15 0 0 0 18
GenomeConnect, ClinGen 0 0 0 0 0 18 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 6 10 0 0 0 18
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 17 0 0 0 17
Kariminejad - Najmabadi Pathology & Genetics Center 3 7 7 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 8 0 1 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 4 2 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 2 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 3 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 0 0 6 0 0 0 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 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
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 4 1 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 0 0 0 5
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 2 1 0 2 0 5
Solve-RD Consortium 0 5 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 0 3 1 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
MVZ Medizinische Genetik Mainz 0 2 2 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Laboratory Cellgenetics, GMDL Cellgenetics 0 0 3 0 0 0 3
MVZ Martinsried, Medicover Genetics 0 0 3 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
Breda Genetics srl, Breda Genetics srl 0 0 2 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Clinical Genomics, G42 Labs 0 1 0 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
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Department of Biochemistry, All India Institute of Medical Sciences, Kalyani 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 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
Suma Genomics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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