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 not provided total
130 149 295 340 79 2 803

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 88 27 37 284 39 1 464
Hyperinsulinemic hypoglycemia, familial, 1 48 111 158 17 10 0 323
Permanent neonatal diabetes mellitus 15 2 82 20 19 0 138
Hereditary hyperinsulinism 9 3 91 8 19 0 130
Transient neonatal diabetes mellitus 2 4 1 39 20 53 0 117
not specified 0 1 36 34 27 0 78
Familial hyperinsulinism 18 8 1 0 0 0 27
Monogenic diabetes 0 2 12 1 2 0 17
Neonatal diabetes mellitus 0 10 4 1 0 1 16
Permanent neonatal diabetes mellitus 3 9 0 1 0 0 0 10
Type 2 diabetes mellitus 3 0 5 1 0 0 9
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 2 3 3 0 0 0 8
Hyperinsulinism, Dominant/Recessive 0 0 2 3 2 0 7
Transient Neonatal Diabetes, Dominant 0 0 2 3 2 0 7
Atrial septal defect; Short stature; Feeding difficulties; Hypoglycemia; Growth delay; Congestive heart failure; Macrotia; Macrocephalus; Small for gestational age; Cardiac shunt; Gastroesophageal reflux; Neonatal respiratory distress 0 2 0 0 0 0 2
Inborn genetic diseases 1 0 1 0 0 0 2
Leucine-induced hypoglycemia 1 1 0 0 0 0 2
ABCC8-related disorder 0 0 1 0 0 0 1
Diabetes mellitus 0 0 1 0 0 0 1
Hereditary Disorder 0 0 1 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 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 70 20 0 281 30 0 401
Counsyl 8 96 64 2 0 0 170
Natera, Inc. 9 3 92 8 19 0 131
Illumina Clinical Services Laboratory,Illumina 2 0 92 36 55 0 121
Genetic Services Laboratory, University of Chicago 23 11 21 27 4 0 86
Athena Diagnostics Inc 18 6 34 5 20 0 83
Integrated Genetics/Laboratory Corporation of America 26 18 11 1 3 1 60
OMIM 27 0 0 0 0 0 27
PreventionGenetics, PreventionGenetics 0 0 0 4 23 0 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 7 0 7 0 17
GeneReviews 13 0 0 0 0 0 13
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 9 1 2 0 12
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 10 0 0 0 0 0 10
Mendelics 3 1 3 2 0 0 9
Fulgent Genetics,Fulgent Genetics 2 3 3 0 0 0 8
GeneDx 2 0 5 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 2 4 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 1 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 1 0 0 0 4
NxGen MDx 0 2 1 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 2 0 0 0 0 2
Ambry Genetics 1 0 1 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
Kasturba Medical College, Manipal University 2 0 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Scientific Bio-Minds 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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