ClinVar Miner

Variants in gene ABCA2

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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
8 4 292 109 34 438

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 220 9 0 229
not provided 1 1 58 75 30 162
ABCA2-related disorder 0 0 15 31 6 51
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 6 3 26 1 13 49
Ataxia with Dysarthria 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
Ambry Genetics 0 0 216 7 0 223
CeGaT Center for Human Genetics Tuebingen 1 0 7 64 3 75
PreventionGenetics, part of Exact Sciences 0 0 12 31 6 49
GeneDx 0 1 44 0 2 47
Labcorp Genetics (formerly Invitae), Labcorp 0 0 7 17 14 38
Breakthrough Genomics, Breakthrough Genomics 0 0 0 9 23 32
Genome-Nilou Lab 0 0 0 0 13 13
Revvity Omics, Revvity 0 1 11 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 5 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 1 0 6
OMIM 3 0 1 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
3billion 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 1
Sadaf Naz Human Genetics Laboratory, University of the Punjab 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1

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