ClinVar Miner

Variants in gene ABCG8

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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 total
34 20 385 245 93 663

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 26 13 230 162 80 447
Cardiovascular phenotype 3 0 119 119 17 258
Sitosterolemia 1 16 4 105 3 20 143
ABCG8-related condition 2 4 17 53 3 79
not specified 0 0 28 24 25 67
Inborn genetic diseases 0 0 21 1 0 22
Gallbladder disease 4; Sitosterolemia 1 1 0 10 2 1 14
Sitosterolemia 3 2 6 1 0 11
Sitosterolemia; Gallbladder disease 4 0 0 2 0 0 2
Abnormal bleeding; Thrombocytopenia 0 0 1 0 0 1
Abnormal circulating lipid concentration 1 0 0 0 0 1
Premature coronary artery atherosclerosis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 6 123 137 37 327
Ambry Genetics 3 0 140 120 17 280
Eurofins Ntd Llc (ga) 9 1 119 3 9 141
GeneDx 3 0 9 23 53 88
Illumina Laboratory Services, Illumina 2 1 64 4 16 87
PreventionGenetics, part of Exact Sciences 2 4 17 53 3 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 26 19 11 57
Revvity Omics, Revvity 6 2 42 1 0 51
Mayo Clinic Laboratories, Mayo Clinic 0 0 27 0 0 27
Clinical Genetics, Academic Medical Center 3 0 2 2 11 18
Fulgent Genetics, Fulgent Genetics 1 0 11 2 1 15
New York Genome Center 0 0 13 0 0 13
CeGaT Center for Human Genetics Tuebingen 0 0 3 8 0 11
Genome-Nilou Lab 0 0 0 0 11 11
OMIM 10 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 0 0 3 3 4 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 2 5 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 6 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 4 0 7
AiLife Diagnostics, AiLife Diagnostics 1 4 1 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 0 2 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 0 1 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 1 0 0 0 0 1

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