ClinVar Miner

Variants in gene ABCC8

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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 association not provided total
323 449 1208 1402 165 1 26 2850

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 237 145 331 1329 129 0 1 2071
Hyperinsulinemic hypoglycemia, familial, 1 93 188 215 20 19 0 2 482
Maturity-onset diabetes of the young 5 3 444 0 8 0 0 458
Transitory neonatal diabetes mellitus 0 0 428 0 2 0 0 430
Hereditary hyperinsulinism 51 90 226 22 26 0 0 415
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 40 66 206 34 2 0 0 348
not specified 0 0 215 125 38 0 0 340
Type 2 diabetes mellitus 86 91 16 1 3 1 0 197
Inborn genetic diseases 6 0 90 89 0 0 0 185
Permanent neonatal diabetes mellitus 4 4 78 16 17 0 13 131
Diabetes mellitus, transient neonatal, 2 6 2 43 19 59 0 0 128
ABCC8-related disorder 14 9 42 40 0 0 0 105
Familial hyperinsulinism 41 29 1 0 0 0 0 71
Neonatal diabetes mellitus 0 16 19 0 0 0 1 36
Diabetes mellitus, permanent neonatal 3 13 1 4 1 16 0 0 35
Leucine-induced hypoglycemia 1 2 1 1 17 0 0 22
Monogenic diabetes 0 3 12 1 2 0 0 18
Pulmonary arterial hypertension 0 0 11 1 0 0 0 12
Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3 2 2 3 0 0 0 0 7
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 2 2 3 0 0 0 0 7
Maturity-onset diabetes of the young, type 12 2 1 1 0 1 0 0 5
See cases 1 1 1 0 0 0 0 3
Atrial septal defect; Short stature; Feeding difficulties; Hypoglycemia; Growth delay; Congestive heart failure; Macrotia; Macrocephaly; Small for gestational age; Cardiac shunt; Gastroesophageal reflux; Neonatal respiratory distress 0 2 0 0 0 0 0 2
Hyperinsulinemia 0 0 2 0 0 0 0 2
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia 1 1 0 0 0 0 0 2
Hypoglycemia 1 0 1 0 0 0 0 2
Neonatal hypoglycemia 0 0 1 0 1 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
ABCC8-related channelopathies 1 0 0 0 0 0 0 1
Autosomal dominant ABCC8-related disorders 0 1 0 0 0 0 0 1
Autosomal dominant hyperinsulinism due to SUR1 deficiency 1 0 0 0 0 0 0 1
Autosomal semidominant ABCC8-related disorders 1 0 0 0 0 0 0 1
Cerebral edema 0 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Congenital isolated hyperinsulinism 0 0 1 0 0 0 0 1
Diabetes mellitus 0 0 1 0 0 0 0 1
Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 0 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Hereditary disease 0 0 1 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3 0 1 0 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 0 0 0 0 0 0 1 1
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus 0 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 0 1 1
Permanent neonatal diabetes mellitus; Familial hyperinsulinism 0 0 0 0 0 0 1 1
Retrognathia; Polyhydramnios; Hypoglycemia; Bilateral cryptorchidism; Pointed chin; Broad forehead; Triangular face; Long philtrum; Generalized hypotonia; Neonatal hypotonia; Large for gestational age; Large fleshy ears 0 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 209 94 194 1254 63 0 0 1814
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 457 0 14 1 0 465
Natera, Inc. 51 90 227 22 26 0 0 416
Fulgent Genetics, Fulgent Genetics 40 68 209 34 2 0 0 351
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 55 38 155 79 17 0 1 345
GeneDx 23 23 121 58 85 0 0 310
Genetic Services Laboratory, University of Chicago 46 32 66 47 6 0 0 197
Ambry Genetics 6 0 90 89 0 0 0 185
Baylor Genetics 82 89 7 0 0 0 0 178
Counsyl 8 95 61 2 0 0 0 166
PreventionGenetics, part of Exact Sciences 9 7 41 44 24 0 0 125
Illumina Laboratory Services, Illumina 3 0 88 32 51 0 0 116
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 45 29 36 0 0 0 0 110
Athena Diagnostics 22 6 39 6 20 0 0 93
Breakthrough Genomics, Breakthrough Genomics 1 0 2 19 30 0 0 52
Myriad Genetics, Inc. 4 37 6 0 0 0 0 47
CeGaT Center for Human Genetics Tuebingen 6 0 11 24 4 0 0 45
Revvity Omics, Revvity 5 13 19 0 0 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 7 14 10 0 0 33
OMIM 29 0 0 0 0 0 0 29
New York Genome Center 2 0 23 0 0 0 0 25
Molecular Genetics, Madras Diabetes Research Foundation 3 16 5 0 0 0 0 24
3billion 8 5 5 0 0 0 0 18
Eurofins Ntd Llc (ga) 3 0 7 0 7 0 0 17
Pars Genome Lab 0 0 1 1 15 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 4 4 1 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 10 1 0 0 0 13
GeneReviews 0 0 0 0 0 0 13 13
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 9 1 2 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 4 4 1 0 0 0 11
Mendelics 3 2 3 2 1 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 10 0 0 0 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 9 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 2 5 0 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 2 1 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 1 0 0 0 0 9
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 8 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 4 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 2 0 4 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 1 5 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 0 5
MVZ Dr. Eberhard & Partner Dortmund 0 0 4 1 0 0 0 5
Variantyx, Inc. 2 3 0 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 3 0 0 0 0 4
Dasa 3 1 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 0 4
MGZ Medical Genetics Center 0 1 3 0 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 1 1 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 0 3
NxGen MDx 0 2 1 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 1 0 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 0 2
Genome-Nilou Lab 0 0 1 0 1 0 0 2
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 0 0 1 0 1 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 0 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 0 1 0 0 0 0 0 1
Department of Endocrinology, Antwerp University Hospital 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child 0 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Scientific Bio-Minds 0 0 0 0 0 0 1 1
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1

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