ClinVar Miner

Variants studied for cone-rod dystrophy 3

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
33 22 11 0 0 60

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCA4 33 22 11 60

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 10 5 4 19
OMIM 14 0 0 14
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 6 1 12
Institute of Human Genetics, University of Leipzig Medical Center 3 0 2 5
Baylor Genetics 2 1 1 4
Institute of Medical Molecular Genetics, University of Zurich 0 4 0 4
Broad Institute Rare Disease Group, Broad Institute 1 1 2 4
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 2
Moosajee Lab,UCL Institute of Ophthalmology 0 1 1 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1
The Cell Therapy Center,The University of Jordan 1 0 0 1

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