ClinVar Miner

Variants studied for Mendelian encephalopathy

Included ClinVar conditions (27):
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 risk factor not provided total
400 145 1126 952 345 3 27 2888

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MECP2 220 24 209 339 172 0 0 940
RANBP2 2 6 443 268 88 3 3 796
ETHE1 50 47 70 204 10 0 22 367
SERPINI1 6 0 186 105 23 0 0 314
TBCD 18 17 63 0 11 0 0 103
BSCL2, HNRNPUL2-BSCL2 5 3 34 10 4 0 0 56
DNM1L 15 15 15 4 4 0 0 49
TRAPPC12 7 9 15 1 6 0 0 37
NAXE 14 2 4 0 8 0 0 27
NAXD 9 6 11 2 0 0 0 26
ETHE1, LOC130064595 5 1 10 3 5 0 2 20
LOC130068854, MECP2 3 0 8 4 4 0 0 17
PRNP 5 1 6 4 1 0 0 17
MFF 7 2 5 2 0 0 0 15
LIPT2 3 4 3 2 3 0 0 12
TBCE 3 3 6 0 0 0 0 12
MYRF 2 0 7 0 0 0 0 9
TRAPPC2L 1 3 4 1 0 0 0 8
ANKRD11, TRAPPC2L 2 1 0 2 0 0 0 5
CCDC138, EDAR, RANBP2 0 0 5 0 0 0 0 5
HMBS 5 0 0 0 0 0 0 5
PDCD10, SERPINI1 0 0 3 1 1 0 0 5
LOC126862673, TBCD 0 1 1 0 1 0 0 3
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, RENBP, TMEM187 2 0 0 0 0 0 0 2
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, RENBP, TMEM187 2 0 0 0 0 0 0 2
B3GALNT2, TBCE 0 0 2 0 0 0 0 2
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 0 2
DNM1L, YARS2 0 0 0 0 2 0 0 2
FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1 2 0 0 0 0 0 0 2
GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 0 2
IRAK1, MECP2 2 0 0 0 0 0 0 2
KCNE3, LIPT2 0 0 1 0 1 0 0 2
LIPT2, LOC130006411 0 0 2 0 0 0 0 2
LOC130062062, TBCD 0 0 2 0 0 0 0 2
ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, CCNQ, DUSP9, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MAGEA1, MECP2, NAA10, OPN1LW, PDZD4, PLXNB3, PNCK, PNMA6E, RENBP, SLC6A8, SRPK3, SSR4, TMEM187, TREX2, ZFP92, ZNF275 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TMEM187 1 0 0 0 0 0 0 1
ARHGAP4, AVPR2, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 0 0 1
ARHGAP4, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, MECP2, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RPL10, SLC10A3, TAFAZZIN, TEX28, TKTL1, UBL4A 1 0 0 0 0 0 0 1
BEND4 0 0 1 0 0 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 1 0 0 0 0 1
CADM4, CEACAM16, CEACAM19, CEACAM20, ETHE1, IGSF23, IRGC, IRGQ, KCNN4, LYPD5, PINLYP, PLAUR, PVR, SMG9, SRRM5, XRCC1, ZNF112, ZNF155, ZNF180, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF283, ZNF284, ZNF285, ZNF404, ZNF428, ZNF45, ZNF575, ZNF576 0 0 1 0 0 0 0 1
CCDC138, EDAR, LOC126806303, LOC129388897, LOC129388898, LOC129934529, RANBP2 0 0 1 0 0 0 0 1
CEP55 0 0 1 0 0 0 0 1
COL4A2 1 0 0 0 0 0 0 1
DNASE1L1, EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
LOC129937857, PDCD10, SERPINI1 0 0 0 0 1 0 0 1
LOC130010118, LOC130010119, LOC130010120, LOC130010121, NAXD 1 0 0 0 0 0 0 1
OSBPL7 0 0 1 0 0 0 0 1
TBCD, ZNF750 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 271 35 871 899 289 0 0 2365
Fulgent Genetics, Fulgent Genetics 11 4 52 43 2 0 0 112
Baylor Genetics 19 31 55 0 0 0 0 105
OMIM 84 0 1 0 0 3 0 88
Illumina Laboratory Services, Illumina 1 1 38 5 21 0 0 66
Genome-Nilou Lab 0 0 2 0 41 0 0 43
Revvity Omics, Revvity 5 4 29 0 0 0 0 38
Natera, Inc. 6 2 16 6 5 0 0 35
GeneReviews 0 0 0 0 0 0 27 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 3 16 1 1 0 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 12 0 0 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 5 5 10 0 0 0 0 20
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 5 0 4 0 9 0 0 18
Mendelics 5 2 3 4 1 0 0 15
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 7 0 0 0 0 0 15
RettBASE 9 0 4 0 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 1 2 1 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 2 2 7 0 1 0 0 12
New York Genome Center 0 1 11 0 0 0 0 12
3billion 3 6 3 0 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 4 4 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 8 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 8 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 0 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 2 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 4 0 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 6 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 1 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 1 0 0 4
Molecular Genetics Lab, CHRU Brest 2 1 1 0 0 0 0 4
Suma Genomics 3 1 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 2 0 0 0 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 0 1 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 2 0 0 0 0 3
Centre for Population Genomics, CPG 1 1 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 2
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 0 2
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Wendy Chung Laboratory, Columbia University Medical Center 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 1
Watson Genetic Lab 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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