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 not provided total
102 20 456 608 37 1 1215

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GUCY2D 102 20 452 608 37 1 1211
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, GUCY2D, HES7, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1 0 0 1 0 0 0 1
BEST1 0 0 1 0 0 0 1
KCNV2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 96 15 450 606 36 0 1203
Fulgent Genetics, Fulgent Genetics 2 1 9 2 2 0 16
Mendelics 4 1 4 0 2 0 11
OMIM 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 1 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Noruzinia Laboratory, Tarbiat Modares University 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Department of Ophthalmology, California Pacific Medical Center 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1

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