ClinVar Miner

Variants studied for Retinitis pigmentosa 12

Coded as:
Minimum submission review status: Collection method:
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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 total
61 60 96 21 7 236

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 total
CRB1 61 60 96 21 7 236

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 47 33 78 20 7 185
Ocular Genomics Institute, Massachusetts Eye and Ear 2 7 11 1 0 21
3billion 3 6 6 0 0 15
OMIM 10 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 4 0 0 0 9
DBGen Ocular Genomics 3 4 1 0 0 8
Genomics England Pilot Project, Genomics England 2 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 1 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 2
Pangenia Genomics, Pangenia Inc. 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 1
DASA 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 1

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