ClinVar Miner

Variants studied for vitelliform macular dystrophy 2

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
55 39 39 22 18 1 161

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
BEST1 43 32 34 9 11 1 120
BEST1, FTH1 3 3 2 13 7 0 25
PRPH2 6 3 3 0 0 0 12
IMPG2 2 1 0 0 0 0 3
IMPG1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 21 21 14 0 57
OMIM 15 0 0 0 0 0 15
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
Fulgent Genetics, Fulgent Genetics 4 0 1 1 2 0 8
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 1 3 2 0 0 0 6
MGZ Medical Genetics Center 0 4 1 0 0 0 5
Institute of Medical Molecular Genetics, University of Zurich 0 5 0 0 0 0 5
Mendelics 2 1 0 0 2 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 3 0 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 4 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 3 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 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
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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