ClinVar Miner

Variants studied for adult-onset foveomacular vitelliform dystrophy

Included ClinVar conditions (9):
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
24 16 36 5 48 3 129

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
PRPH2 9 10 30 5 42 0 95
IMPG2 7 5 4 0 4 0 19
IMPG1 7 1 2 0 2 2 13
BEST1 1 0 0 0 0 0 1
MYH9 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 30 4 42 0 76
OMIM 16 0 0 0 0 0 16
Genome-Nilou Lab 0 0 0 0 10 0 10
Institute of Human Genetics, University of Leipzig Medical Center 3 3 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 4 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 1 1 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
DBGen Ocular Genomics 2 1 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Leiden Open Variation Database 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1
Medical Retina And Imaging, Irccs Ospedale San Raffaele 0 1 0 0 0 0 1

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