ClinVar Miner

Variants studied for cone-rod dystrophy 15

Included ClinVar conditions (2):
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 total
11 6 130 12 11 165

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
CDHR1 11 6 127 11 11 161
CDHR1, LOC130004216 0 0 1 1 0 2
RPE65 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 113 8 6 127
OMIM 8 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 3 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 0 6
Genome-Nilou Lab 0 0 2 0 4 6
Mendelics 1 0 4 0 0 5
DBGen Ocular Genomics 1 2 1 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1

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