ClinVar Miner

Variants studied for Bethlem myopathy 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
311 140 1860 2678 634 15 5575

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL6A3 77 34 976 1246 246 2 2560
COL6A2 126 59 551 726 112 4 1561
COL6A1 94 42 298 666 262 9 1347
COL6A3, LOC126806573 1 0 19 32 5 0 57
COL6A3, LOC122889011 10 5 10 8 1 0 33
COL6A2, FTCD 0 0 0 0 7 0 7
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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 297 97 1805 2677 622 0 5498
Genome-Nilou Lab 0 0 0 0 35 0 35
Mendelics 8 5 5 1 9 0 28
MGZ Medical Genetics Center 1 6 10 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 6 0 0 0 11
Baylor Genetics 1 1 8 0 0 0 10
3billion 4 3 3 0 0 0 10
OMIM 0 0 0 0 0 8 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 8 0 0 0 8
GeneReviews 0 0 0 0 0 7 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 4 0 0 0 7
Broad Institute Rare Disease Group, Broad Institute 2 1 1 0 2 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 3 2 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 1 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 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
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 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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