ClinVar Miner

Variants studied for familial lipoprotein lipase deficiency

Included ClinVar conditions (3):
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 association not provided total
48 33 103 22 34 2 2 224

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
LPL 47 33 102 22 34 2 2 222
APOA5 0 0 1 0 0 0 0 1
GPIHBP1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Illumina Laboratory Services, Illumina 1 0 75 8 26 0 0 110
Natera, Inc. 11 4 11 13 13 0 0 52
OMIM 35 0 0 0 1 2 0 38
Fulgent Genetics, Fulgent Genetics 6 15 5 2 1 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 0 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 1 1 0 0 0 8
Genome-Nilou Lab 0 1 6 0 1 0 0 8
Baylor Genetics 3 1 1 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 5
3billion, Medical Genetics 2 1 2 0 0 0 0 5
DASA 5 0 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 2 1 0 0 0 0 5
Centogene AG - the Rare Disease Company 1 3 0 0 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 2 0 2 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 0 3
Mendelics 0 0 1 0 1 0 0 2
idemuth, Charité - Universiätsmedizin Berlin 0 0 0 0 0 0 2 2
Department of Endocrinology, The Affiliated hospital of QingDao University 0 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 2
Biology of Aging working group, Charite - Universitätsmedizin Berlin 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 1
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1

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