ClinVar Miner

Variants in gene ABCC8

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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 association not provided total
274 353 795 1318 163 1 14 2296

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 217 124 186 1253 126 0 1 1841
Maturity onset diabetes mellitus in young 3 2 444 0 10 0 0 458
Hyperinsulinemic hypoglycemia, familial, 1 82 171 206 19 18 0 0 456
Transitory neonatal diabetes mellitus 0 0 449 0 2 0 0 451
Hereditary hyperinsulinism 26 10 107 22 25 0 0 190
not specified 0 0 119 61 31 0 0 181
Type 2 diabetes mellitus 74 77 13 1 3 1 0 168
Permanent neonatal diabetes mellitus 2 2 81 19 19 0 13 136
Diabetes mellitus, transient neonatal, 2 5 1 42 19 59 0 0 125
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 14 10 57 29 2 0 0 112
Inborn genetic diseases 5 0 41 53 0 0 0 99
ABCC8-related condition 7 7 22 38 0 0 0 74
Familial hyperinsulinism 32 15 2 0 0 0 0 49
Diabetes mellitus, permanent neonatal 3 10 0 3 1 15 0 0 29
Neonatal diabetes mellitus 0 17 5 1 0 0 1 24
Leucine-induced hypoglycemia 1 2 0 1 14 0 0 18
Monogenic diabetes 0 2 12 1 2 0 0 17
Hyperinsulinism, Dominant/Recessive 0 0 2 3 2 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
Transient Neonatal Diabetes, Dominant 0 0 2 3 2 0 0 7
Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3 1 0 3 0 0 0 0 4
ABCC8-related disorders 3 0 0 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
Hypoglycemia 1 0 1 0 0 0 0 2
ABCC8-related disorder 0 0 1 0 0 0 0 1
Autosomal dominant hyperinsulinism due to SUR1 deficiency 1 0 0 0 0 0 0 1
Cerebral edema 0 0 1 0 0 0 0 1
Congenital isolated hyperinsulinism 0 0 1 0 0 0 0 1
Diabetes mellitus 0 0 1 0 0 0 0 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
Neonatal hypoglycemia 0 0 0 0 1 0 0 1
Obesity 1 0 0 0 0 0 0 1
Pulmonary arterial hypertension 0 0 1 0 0 0 0 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
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 194 89 98 1183 62 0 0 1626
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 457 0 16 1 0 464
GeneDx 15 9 56 58 84 0 0 222
Genetic Services Laboratory, University of Chicago 46 32 62 47 5 0 0 192
Natera, Inc. 26 10 108 22 25 0 0 191
Counsyl 8 95 61 2 0 0 0 166
Baylor Genetics 71 75 6 0 0 0 0 152
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 42 23 57 10 9 0 1 142
Illumina Laboratory Services, Illumina 3 0 92 34 53 0 0 122
Fulgent Genetics, Fulgent Genetics 16 12 60 29 2 0 0 119
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 43 28 32 0 0 0 0 103
PreventionGenetics, part of Exact Sciences 7 7 22 42 23 0 0 101
Ambry Genetics 5 0 41 53 0 0 0 99
Athena Diagnostics Inc 21 6 37 6 20 0 0 90
Myriad Genetics, Inc. 2 32 7 0 0 0 0 41
OMIM 27 0 0 0 0 0 0 27
New York Genome Center 2 0 23 0 0 0 0 25
Revvity Omics, Revvity 3 6 15 0 0 0 0 24
Molecular Genetics, Madras Diabetes Research Foundation 3 16 5 0 0 0 0 24
CeGaT Center for Human Genetics Tuebingen 1 0 3 16 1 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 8 8 0 0 20
Eurofins Ntd Llc (ga) 3 0 7 0 7 0 0 17
Pars Genome Lab 0 0 1 1 14 0 0 16
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
3billion 5 4 3 0 0 0 0 12
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 2 0 4 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 1 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 1 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 4 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 1 5 0 0 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 5 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 0 5
MGZ Medical Genetics Center 0 1 3 0 0 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 0 0 3 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 1 0 0 0 0 3
NxGen MDx 0 2 1 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 1 0 1 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
Institute of Human Genetics, University of Goettingen 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
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 0 1
Scientific Bio-Minds 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Department of Endocrinology, Antwerp University Hospital 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 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

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