ClinVar Miner

Variants studied for RLBP1-related retinopathy

Included ClinVar conditions (8):
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
31 19 110 33 37 1 220

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRPH2 5 3 52 12 17 0 89
RLBP1 8 7 37 14 13 0 69
BLOC1S1-RDH5, RDH5 7 5 8 5 3 1 28
BLOC1S1-RDH5, CD63, RDH5 5 1 11 2 1 0 20
RHO 5 3 2 0 3 0 13
EYS 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 101 33 32 0 160
Sharon lab, Hadassah-Hebrew University Medical Center 10 2 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 6 1 0 0 0 11
Genome-Nilou Lab 0 0 0 0 11 0 11
OMIM 6 0 0 0 0 0 6
Mendelics 4 2 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 2 0 3 1 0 0 6
3billion 2 4 0 0 0 0 6
Revvity Omics, Revvity 2 1 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Animal Sciences, Quaid-i-Azam University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 1 0 0 0 0 0 1

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