ClinVar Miner

Variants studied for Familial hypobetalipoproteinemia 1

Coded as:
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Gene type:
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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
15 19 245 31 12 313

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 total
APOB 14 18 224 31 10 288
APOB, LOC106560211 1 1 9 0 2 13
APOB, APOB3'MAR 0 0 12 0 0 12

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 234 26 4 264
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 0 11 0 0 0 11
Genome-Nilou Lab 0 0 0 0 8 8
Baylor Genetics 3 2 2 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 3 2 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 4
Phosphorus, Inc. 0 0 3 1 0 4
OMIM 3 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
3billion, Medical Genetics 1 1 0 0 0 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 0 1 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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