ClinVar Miner

Variants studied for abetalipoproteinemia

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 not provided total
41 60 174 33 40 5 333

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MTTP 20 59 114 28 38 5 246
APOB 21 0 25 1 0 0 47
PCSK9 0 0 29 3 0 0 32
LOC126807124, MTTP 0 1 4 1 2 0 6
APOB, APOB3'MAR 0 0 2 0 0 0 2

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 0 116 13 31 0 160
Natera, Inc. 5 2 50 13 25 0 95
Myriad Genetics, Inc. 0 48 0 0 0 0 48
OMIM 25 0 0 0 0 0 25
Genome-Nilou Lab 0 0 7 3 5 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 4 0 0 0 0 13
New York Genome Center 0 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 1 2 4 0 1 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 2 0 6
GeneReviews 0 0 0 0 0 5 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 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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