ClinVar Miner

Variants studied for age-related macular degeneration

Included ClinVar conditions (41):
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 association established risk allele protective risk factor other not provided total
308 309 1031 284 310 2 2 2 10 1 10 2101

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele protective risk factor other not provided total
ABCA4 213 252 105 6 22 0 2 0 0 1 7 511
HMCN1 1 0 340 70 85 0 0 0 0 0 0 470
C3 0 3 119 62 48 0 0 0 0 0 0 229
CFH 3 3 103 45 40 0 0 0 6 0 0 184
PROM1 11 0 59 29 27 0 0 0 0 0 1 126
CNGB3 2 1 77 8 20 0 0 0 0 0 1 109
RAX2 1 0 43 11 14 0 0 0 0 0 0 68
ELOVL4 4 1 39 7 19 0 0 0 0 0 0 67
FBLN5 8 0 44 10 12 0 0 0 0 0 0 67
C2 2 0 38 6 3 0 0 1 0 0 0 49
PRPH2 19 14 13 0 0 0 0 0 0 0 0 46
ABCA4, LOC126805793 13 15 7 0 2 0 0 0 0 0 0 31
MFSD8 6 7 9 5 0 0 0 0 0 0 0 26
ARMS2 0 0 7 5 9 0 0 0 2 0 0 22
ABCA4, LOC126805794 7 4 6 0 0 0 0 0 0 0 0 16
C2, CFB 1 0 3 8 6 0 0 1 0 0 0 16
APOE 0 1 3 3 0 0 0 0 0 0 0 7
CFHR3 0 0 1 4 2 0 0 0 0 0 0 7
BEST1 2 2 1 0 0 0 0 0 0 0 0 5
CFB 0 0 3 2 0 0 0 0 0 0 0 5
HMCN1, LOC129388665 0 0 1 3 0 0 0 0 0 0 0 4
HTRA1 2 0 1 0 0 0 0 0 1 0 0 4
CRX 1 2 0 0 0 0 0 0 0 0 0 3
ABCB4 0 0 2 0 0 0 0 0 0 0 0 2
CRB1 1 0 1 0 0 0 0 0 0 0 0 2
CX3CR1 0 0 1 0 0 0 0 0 1 0 0 2
HMCN1, LOC126805953 0 0 2 0 0 0 0 0 0 0 0 2
LRIT3 2 0 0 0 0 0 0 0 0 0 0 2
ABCA4, LOC112590828, LOC126805793, LOC126805794 0 1 0 0 0 0 0 0 0 0 0 1
CERKL 1 0 0 0 0 0 0 0 0 0 0 1
CFHR1 0 0 1 0 0 0 0 0 0 0 0 1
CFHR1, CFHR3 1 0 0 0 0 0 0 0 0 0 0 1
COL2A1 1 0 0 0 0 0 0 0 0 0 0 1
CST3, LOC130065547 1 0 0 0 1 0 0 0 0 0 0 1
DCT 0 0 0 0 0 1 0 0 0 0 0 1
EYS 0 1 0 0 0 0 0 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 0 0 0 0 0 1
GPHN, RDH12 0 1 0 0 0 0 0 0 0 0 0 1
KCNV2 1 0 0 0 0 0 0 0 0 0 0 1
MC1R 0 0 0 0 0 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 0 0 0 0 1
PCARE 1 0 0 0 0 0 0 0 0 0 0 1
RHO 0 0 1 0 0 0 0 0 0 0 0 1
RP1L1 0 0 0 0 0 0 0 0 0 0 1 1
SNRNP200 0 0 1 0 0 0 0 0 0 0 0 1
TULP1 1 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele protective risk factor other not provided total
Illumina Laboratory Services, Illumina 1 0 666 173 223 0 0 0 0 0 0 1063
Genome-Nilou Lab 3 0 214 74 163 0 0 0 0 0 0 454
Fulgent Genetics, Fulgent Genetics 34 19 128 106 21 0 0 0 0 0 0 308
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 67 83 27 0 0 0 0 0 0 0 0 177
Institute of Medical Molecular Genetics, University of Zurich 0 80 0 0 0 0 0 0 0 0 0 80
Mendelics 41 9 10 4 5 0 0 0 0 0 0 69
OMIM 49 0 1 0 0 0 0 2 10 0 0 62
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 15 29 7 0 0 0 0 0 0 0 0 51
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 18 14 13 0 0 0 0 0 0 0 0 45
NIHR Bioresource Rare Diseases, University of Cambridge 7 35 0 2 0 0 0 0 0 0 0 44
Sharon lab, Hadassah-Hebrew University Medical Center 29 14 0 0 0 0 0 0 0 0 0 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 17 8 16 0 0 0 0 0 0 0 0 41
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 24 9 0 0 0 0 0 0 0 0 0 33
Ocular Genomics Institute, Massachusetts Eye and Ear 16 8 7 0 0 0 0 0 0 0 0 31
DBGen Ocular Genomics 9 9 9 0 0 0 0 0 0 0 0 27
3billion 12 10 2 0 0 0 0 0 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 13 6 2 0 0 0 2 0 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 4 7 0 0 0 0 0 0 0 0 21
MGZ Medical Genetics Center 9 6 3 0 0 0 0 0 0 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 5 5 0 0 0 0 0 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 15 0 0 0 0 0 0 0 0 15
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 11 4 0 0 0 0 0 0 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 6 1 0 0 0 0 0 0 0 0 14
Molecular Genetics Laboratory, Institute for Ophthalmic Research 12 0 0 0 0 0 0 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 2 0 0 0 0 0 0 0 0 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 5 2 0 0 0 0 0 0 0 0 11
Molecular Genetics, Royal Melbourne Hospital 7 3 1 0 0 0 0 0 0 0 0 11
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 10 0 0 0 0 0 0 0 0 10
Baylor Genetics 5 3 1 0 0 0 0 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 4 1 0 0 0 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 7 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 1 0 0 0 0 0 0 0 0 7
Department of Ophthalmology and Visual Sciences Kyoto University 6 0 0 0 0 0 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 1 1 0 0 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 0 0 4 0 0 0 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 0 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 3 1 0 0 0 0 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 0 0 0 0 0 4
Arcensus 0 3 1 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 1 0 2 0 0 0 0 0 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 1 1 0 0 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 1 0 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 1 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 3 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 0 0 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 0 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 0 0 0 0 2
Department of Ophthalmology, California Pacific Medical Center 0 1 1 0 0 0 0 0 0 0 0 2
Wuhan Primbio Medical Laboratory 1 0 1 0 0 0 0 0 0 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 1 0 1 0 0 0 0 0 0 0 0 2
School of Pharmacy, University of Eastern Finland 0 0 0 0 0 2 0 0 0 0 0 2
Molecular Vision Laboratory 0 0 0 0 0 0 0 0 0 1 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 1 0 0 0 0 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory, Federal University of Parana 0 1 0 0 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 0 0 1
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware 0 1 0 0 0 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Karadeniz Technical University 0 1 0 0 0 0 0 0 0 0 0 1

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