ClinVar Miner

Variants studied for Warburg micro syndrome

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
59 15 420 253 92 15 810

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
RAB3GAP2 13 6 271 240 40 2 542
RAB3GAP1 34 9 61 8 19 9 130
RAB18 5 0 79 5 30 4 119
TBC1D20 5 0 3 0 3 0 11
LOC130003564, RAB18 0 0 3 0 0 0 3
BPNT1, EPRS1, IARS2, MIR194-1, MIR215, RAB3GAP2, SLC30A10 0 0 2 0 0 0 2
BPNT1, C1orf115, EPRS1, IARS2, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, SLC30A10, TGFB2 1 0 0 0 0 0 1
LOC111562379, LOC129934831, RAB3GAP1, SNORA40B 1 0 0 0 0 0 1
LOC130003565, RAB18 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 8 3 175 222 32 0 440
Illumina Laboratory Services, Illumina 0 0 239 33 64 0 336
OMIM 27 0 0 0 0 0 27
GeneReviews 0 0 0 0 0 14 14
Fulgent Genetics, Fulgent Genetics 1 0 7 0 1 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 0 3 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 3 3 0 0 0 6
Baylor Genetics 3 0 2 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 1 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 2
3billion, Medical Genetics 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 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
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
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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