ClinVar Miner

Variants studied for patterned dystrophy of the retinal pigment epithelium

Included ClinVar conditions (7):
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
40 31 138 20 25 1 248

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRPH2 29 22 57 12 17 0 130
CTNNA1 6 9 80 8 3 1 107
RCBTB1 3 0 0 0 5 0 8
MAPKAPK3 1 0 1 0 0 0 2
PRPH2, UBR2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 2 9 78 0 0 0 89
Illumina Laboratory Services, Illumina 0 0 52 12 17 0 81
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 13 10 5 0 0 0 28
OMIM 13 0 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 0 4 6 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
Mendelics 5 1 0 1 2 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 3 0 6
MGZ Medical Genetics Center 3 1 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 4 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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