ClinVar Miner

Variants studied for hypobetalipoproteinemia

Included ClinVar conditions (8):
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
169 116 1102 1623 348 8 2961

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
APOB 129 44 841 1515 268 1 2426
MTTP 20 62 116 28 38 5 251
PCSK9 0 0 86 24 24 0 134
APOB, LOC106560211 2 5 29 44 11 0 86
APOB, APOB3'MAR 1 0 21 11 3 0 31
SAR1B 9 4 1 0 2 2 15
ANGPTL3, DOCK7 7 0 4 0 0 0 11
LOC126807124, MTTP 0 1 4 1 2 0 6
DCDC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 108 16 435 1539 280 0 2378
Illumina Laboratory Services, Illumina 0 0 407 60 59 0 526
Fulgent Genetics, Fulgent Genetics 8 6 224 16 2 0 256
Natera, Inc. 5 2 50 13 25 0 95
New York Genome Center 4 0 65 0 0 0 69
Myriad Genetics, Inc. 0 48 0 0 0 0 48
OMIM 43 0 0 0 0 0 43
Genome-Nilou Lab 0 0 7 3 14 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 4 0 0 0 0 13
Baylor Genetics 4 3 4 0 0 0 11
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 0 11 0 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 4 3 2 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 7 0 0 0 0 8
GeneReviews 0 0 0 0 0 7 7
Revvity Omics, Revvity 2 3 1 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 2 0 6
Genetic Services Laboratory, University of Chicago 2 3 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 2 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
Phosphorus, Inc. 0 0 3 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 0 0 0 0 4
Counsyl 1 1 0 1 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
3billion 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 0 1 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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