ClinVar Miner

Variants studied for cone-rod dystrophy 6

Included ClinVar conditions (3):
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
38 9 178 66 16 301

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GUCY2D 38 9 175 66 16 298
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 1
BEST1 0 0 1 0 0 1
KCNV2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 5 172 66 15 287
Mendelics 5 2 3 0 2 12
OMIM 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 1 0 0 4
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Noruzinia Laboratory,Tarbiat Modares University 0 0 1 0 0 1
Department of Ophthalmology,California Pacific Medical Center 0 0 1 0 0 1

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