ClinVar Miner

Variants studied for IMPDH1-related 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 total
9 7 77 9 6 104

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 total
IMPDH1 9 7 66 9 5 92
IMPDH1, LOC129999258 0 0 8 0 1 9
IMPDH1, LOC107986845 0 0 3 0 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 62 7 5 74
OMIM 6 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 5
DBGen Ocular Genomics 1 1 1 0 1 4
3billion 1 0 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 0 0 0 1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1

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