ClinVar Miner

Variants in gene ABCA1

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Minimum submission review status: Collection method:
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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
38 16 396 543 238 1077

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 18 7 188 380 209 760
Cardiovascular phenotype 0 1 83 228 24 336
Tangier disease 15 2 79 20 41 156
Hypoalphalipoproteinemia, primary, 1 4 4 47 23 63 140
not specified 0 0 35 37 39 109
Inborn genetic diseases 0 1 29 4 0 34
Hypoalphalipoproteinemia, primary, 1; Tangier disease 0 1 14 3 2 20
ABCA1-related condition 2 0 0 7 10 19
Familial High Density Lipoprotein Deficiency 0 0 2 0 4 6
ABCA1-Related Disorders 2 0 1 0 0 3
Hypercholesterolemia, familial, 1 0 0 2 0 0 2
ABCA1 polymorphism 0 0 0 0 1 1
ABCA1-related dyslipidemia 1 0 0 0 0 1
Breast carcinoma 0 1 0 0 0 1
Early-onset coronary artery disease 0 1 0 0 0 1
Familial hypercholesterolemia 0 0 1 0 0 1
Familial hypoalphalipoproteinemia 0 1 0 0 0 1
High myopia 0 0 1 0 0 1
RECLASSIFIED - ABCA1 POLYMORPHISM 0 0 0 0 1 1
Reduced delayed hypersensitivity 0 1 0 0 0 1
Symphalangism affecting the proximal phalanx of the 4th finger 0 1 0 0 0 1
Tangier disease, variant 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 6 147 313 91 574
Ambry Genetics 0 2 112 232 24 370
GeneDx 0 1 22 56 144 223
Illumina Laboratory Services, Illumina 4 0 76 30 67 138
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 37 38 39 117
CeGaT Center for Human Genetics Tuebingen 1 0 2 17 3 23
OMIM 19 0 0 0 2 21
PreventionGenetics, part of Exact Sciences 2 0 0 7 10 19
Mayo Clinic Laboratories, Mayo Clinic 0 0 17 0 0 17
New York Genome Center 0 2 15 0 0 17
Clinical Genetics, Academic Medical Center 0 0 2 3 9 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 1 10
Baylor Genetics 0 1 5 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 0 3 2 5
Revvity Omics, Revvity 1 0 3 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 4
Genome-Nilou Lab 0 0 0 0 4 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1
Phenosystems SA 0 1 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 1 0 0 0 1

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