ClinVar Miner

Variants studied for Warburg micro syndrome 1

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
35 8 55 6 17 9 120

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
RAB3GAP1 34 8 55 6 17 9 119
LOC111562379, LOC129934831, RAB3GAP1, SNORA40B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 51 6 17 0 74
OMIM 13 0 0 0 0 0 13
GeneReviews 0 0 0 0 0 9 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 0 2 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 1 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 0 3
3billion 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 1

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