ClinVar Miner

Variants studied for IMPG2-related dominant retinopathy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
9 4 11 0 4 1 28

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
IMPG2 9 4 11 4 0 27
IMPG1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 1 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
Genome-Nilou Lab 0 0 0 3 0 3
OMIM 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1

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