ClinVar Miner

Variants studied for cone-rod dystrophy 3

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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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
32 14 5 0 0 48

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 32 14 5 48

Submitter and significance breakdown #

Total submitters: 12
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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 5 1 11
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 3
Baylor Genetics 1 1 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 1
The Cell Therapy Center,The University of Jordan 1 0 0 1

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