ClinVar Miner

Variants studied for vitelliform macular dystrophy

Included ClinVar conditions (12):
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
77 54 81 27 66 4 293

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BEST1 42 31 33 8 11 1 117
PRPH2 14 13 38 6 42 0 111
BEST1, FTH1 3 3 2 13 7 0 25
IMPG2 10 6 5 0 4 0 24
IMPG1 8 1 3 0 2 2 15
MYH9 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 55 26 56 0 138
OMIM 31 0 0 0 0 0 31
Genome-Nilou Lab 0 0 0 0 15 0 15
Fulgent Genetics, Fulgent Genetics 4 0 3 2 3 0 12
Sharon lab, Hadassah-Hebrew University Medical Center 11 1 0 0 0 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 8 0 0 0 0 11
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 4 2 3 0 0 0 9
Molecular Genetics Laboratory, Institute for Ophthalmic Research 8 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 5 0 0 0 0 8
MGZ Medical Genetics Center 0 6 1 0 0 0 7
Institute of Medical Molecular Genetics, University of Zurich 0 6 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 1 1 0 0 0 6
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 1 3 2 0 0 0 6
Mendelics 2 1 0 0 2 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 4 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 3 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 4 0 0 0 5
DBGen Ocular Genomics 2 2 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 0 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 2
3billion 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Center for Medical Genetics Ghent, University of Ghent 1 0 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
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 1 0 0 0 0 1
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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