ClinVar Miner

Variants studied for Bethlem myopathy 1A

Included ClinVar conditions (8):
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
353 159 2095 2957 664 23 6130

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
COL6A3 88 38 1119 1372 250 9 2824
COL6A2 141 64 600 794 116 8 1692
COL6A1 107 50 338 744 284 6 1493
COL6A3, LOC126806573 1 0 20 34 5 0 60
COL6A3, LOC122889011 11 6 10 12 1 0 39
COL6A2, FTCD 1 0 1 1 7 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
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, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, 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, 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
COL12A1 0 0 1 0 0 0 1
COL6A2, LOC121853033 0 0 1 0 0 0 1
COL6A3, MLPH 0 0 1 0 0 0 1
LMNA 0 1 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
Labcorp Genetics (formerly Invitae), Labcorp 334 101 2013 2939 650 0 6037
Fulgent Genetics, Fulgent Genetics 1 3 24 21 2 0 51
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
Neuberg Centre For Genomic Medicine, NCGM 1 3 10 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 6 0 1 0 12
Baylor Genetics 1 1 8 0 0 0 10
3billion, Medical Genetics 4 3 3 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 8 0 0 0 8
OMIM 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 2 1 0 2 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
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
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 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
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 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
Suma Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 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
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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