ClinVar Miner

Variants studied for CACNA1F-related retinopathy

Included ClinVar conditions (5):
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
30 21 17 5 7 78

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 total
CACNA1F 28 17 15 5 7 70
CACNA1F, LOC126863257 1 2 2 0 0 5
CABP4 0 1 0 0 0 1
PHKA2 1 0 0 0 0 1
WHRN 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 9 0 0 0 0 9
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 4 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 3 1 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 5 0 0 0 5
Mendelics 1 0 0 2 1 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 3 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 0 2 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 2 0 0 2
Pars Genome Lab 0 0 0 2 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 1

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