ClinVar Miner

Variants studied for Warburg micro syndrome 2

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
14 4 246 214 39 2 494

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 not provided total
RAB3GAP2 13 4 245 214 39 2 492
BPNT1, C1orf115, EPRS1, IARS2, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, SLC30A10, TGFB2 1 0 0 0 0 0 1
BPNT1, EPRS1, IARS2, MIR194-1, MIR215, RAB3GAP2, SLC30A10 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 2 171 198 32 0 411
Illumina Laboratory Services, Illumina 0 0 84 18 14 0 116
OMIM 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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