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
29 20 13 5 7 72

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 27 16 12 5 7 65
CACNA1F, LOC126863257 1 2 1 0 0 4
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: 31
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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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Pars Genome Lab 0 0 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 1 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Baylor Genetics 1 0 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
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 1

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