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
87 132 163 180 48 2 513

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 34 7 31 127 38 1 229
Hyperinsulinemic hypoglycemia, familial, 1 40 108 72 4 4 0 213
Permanent neonatal diabetes mellitus 17 2 26 38 11 0 94
not specified 0 0 38 33 24 0 76
Hyperinsulinism, Dominant/Recessive 0 0 26 38 11 0 75
Transient Neonatal Diabetes, Dominant 0 0 26 38 11 0 75
Familial hyperinsulinism 14 7 1 0 0 0 22
Neonatal diabetes mellitus 0 10 4 1 0 1 16
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Diabetes mellitus type 2 2 3 3 0 0 0 8
Monogenic diabetes 0 0 7 0 0 0 7
Transient neonatal diabetes mellitus 2 4 1 0 0 0 0 5
Diabetes mellitus type 2 2 0 1 1 0 0 4
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
ABCC8-related disorder 0 0 1 0 0 0 1
Diabetes mellitus 0 0 1 0 0 0 1
Diabetes mellitus, permanent neonatal, with neurologic features 1 0 0 0 0 0 1
Leucine-induced hypoglycemia 1 0 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 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 10 96 64 2 0 0 172
Invitae 6 3 0 123 29 0 161
Genetic Services Laboratory, University of Chicago 23 10 26 26 1 0 86
Illumina Clinical Services Laboratory,Illumina 2 0 30 38 11 0 81
Athena Diagnostics Inc 18 4 30 5 20 0 77
Integrated Genetics/Laboratory Corporation of America 14 15 8 1 3 1 42
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
Division of Genomic Diagnostics,The 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
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 7 0 0 0 7
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 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
MVZ Dortmund,Dr. Eberhard & Partner 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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 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: University of Minnesota 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1

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