ClinVar Miner

Variants studied for GM2 gangliosidosis

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 affects other not provided total
357 282 629 917 83 36 2 2 2075

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
HEXA 207 157 365 483 25 35 2 1 1127
HEXB 134 115 156 381 21 0 0 1 731
GM2A 8 9 97 51 35 0 0 0 195
GFM2, HEXB 1 0 5 2 1 0 0 0 8
GM2A, LOC129995043 0 0 2 0 1 0 0 0 3
HEXB, LOC129994060, LOC129994061, LOC129994062 3 0 0 0 0 0 0 0 3
ADPGK, ARIH1, BBS4, CD276, CELF6, GOLGA6B, GRAMD2A, HCN4, HEXA, INSYN1, LOXL1, MYO9A, NEO1, NPTN, NR2E3, PARP6, PKM, REC114, SENP8, TBC1D21, TMEM202 1 0 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 0 0 1
ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK 0 0 1 0 0 0 0 0 1
ENC1, HEXB, LOC123497911, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062 1 0 0 0 0 0 0 0 1
GM2A, LOC129995044 1 0 0 0 0 0 0 0 1
GM2A, SLC36A2, SLC36A3 0 0 1 0 0 0 0 0 1
HEXA, LOC130057475 1 1 0 0 0 1 0 0 1
SETX 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 303 59 432 883 41 0 2 0 1720
Counsyl 7 84 87 24 0 0 0 0 202
Natera, Inc. 42 15 73 14 25 0 0 0 169
Illumina Laboratory Services, Illumina 4 2 97 17 43 0 0 0 163
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 69 44 0 0 0 0 0 0 113
Fulgent Genetics, Fulgent Genetics 27 30 10 2 1 0 0 0 70
Myriad Genetics, Inc. 9 55 2 0 0 0 0 0 66
OMIM 23 0 0 0 0 36 0 0 59
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 34 12 2 0 0 0 0 0 48
Revvity Omics, Revvity 15 8 6 0 0 0 0 0 29
Genome-Nilou Lab 0 1 4 3 19 0 0 0 27
Baylor Genetics 14 1 5 0 0 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 6 2 10 0 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 0 1 0 0 0 0 0 12
Mendelics 4 2 0 2 1 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 6 0 0 0 0 0 9
MGZ Medical Genetics Center 4 1 3 0 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 2 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 3 1 1 0 0 0 0 7
Centogene AG - the Rare Disease Company 6 0 0 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 2 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 0 0 0 0 0 0 6
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 4 2 0 0 0 0 0 6
3billion, Medical Genetics 6 0 0 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 1 0 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 0 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 1 0 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 0 0 3
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 1 0 0 0 0 0 0 3
Sema4, Sema4 1 1 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 1 1 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 0 0 2
GenomeConnect - GM1 0 0 0 0 0 0 0 2 2
New York Genome Center 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 2
DASA 2 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 1 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 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 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 1

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