ClinVar Miner

Variants studied for Abetalipoproteinaemia

Coded as:
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
20 68 117 29 40 5 258

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTTP 20 67 113 28 38 5 252
LOC126807124, MTTP 0 1 4 1 2 0 6

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 60 9 31 0 100
Natera, Inc. 5 2 50 13 25 0 95
Myriad Genetics, Inc. 0 48 0 0 0 0 48
Genome-Nilou Lab 0 0 7 3 5 0 15
Fulgent Genetics, Fulgent Genetics 6 8 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 4 0 0 0 0 13
OMIM 9 0 0 0 0 0 9
New York Genome Center 0 0 9 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 2 0 6
GeneReviews 0 0 0 0 0 5 5
Baylor Genetics 1 1 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
Revvity Omics, Revvity 2 1 0 0 0 0 3
Counsyl 1 1 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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