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 6 254 238 39 2 527

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAB3GAP2 13 6 252 238 39 2 524
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

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
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 84 18 14 0 116
Fulgent Genetics, Fulgent Genetics 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
New York Genome Center 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.