ClinVar Miner

Variants studied for KCNV2-related retinopathy

Included ClinVar conditions (2):
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 drug response total
14 20 65 15 20 12 138

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response total
KCNV2 14 20 65 15 20 12 138

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Illumina Laboratory Services, Illumina 1 0 52 14 20 0 87
OMIM 0 0 0 0 0 12 12
Sharon lab, Hadassah-Hebrew University Medical Center 5 3 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 3 0 0 0 0 5
Revvity Omics, Revvity 1 1 3 0 0 0 5
3billion 1 0 2 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
Department of Medical Genetics, College of Basic Medicine, Army Medical University 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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