ClinVar Miner

Variants studied for age-related macular degeneration

Included ClinVar conditions (31):
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 protective risk factor other not provided total
148 146 66 2 0 2 12 1 2 349

Gene and significance breakdown #

Total genes and gene combinations: 32
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign protective risk factor other not provided total
ABCA4 113 136 39 2 0 0 1 2 265
FBLN5 10 1 1 0 0 0 0 0 11
MFSD8 3 2 4 0 0 0 0 0 9
CFH 1 0 2 0 0 6 0 0 8
ERCC6 3 0 5 0 0 0 0 0 8
ELOVL4 3 0 2 0 0 0 0 0 5
CNGB3 3 0 1 0 0 0 0 0 4
PROM1 1 0 3 0 0 0 0 0 4
BEST1 1 1 1 0 0 0 0 0 3
C2 1 0 1 0 1 0 0 0 3
HMCN1 1 0 2 0 0 0 0 0 3
ARMS2 0 0 0 0 0 2 0 0 2
C2, CFB 1 0 0 0 1 0 0 0 2
C3 0 0 2 0 0 0 0 0 2
CRB1 1 0 1 0 0 0 0 0 2
CRX 0 2 0 0 0 0 0 0 2
ABCA4, LOC112590828 0 1 0 0 0 0 0 0 1
C9 0 0 0 0 0 1 0 0 1
CFHR1, CFHR3 1 0 0 0 0 0 0 0 1
CFHR3 0 1 0 0 0 0 0 0 1
CFI 0 0 1 0 0 0 0 0 1
CST3 1 0 0 0 0 0 0 0 1
CX3CR1 0 0 0 0 0 1 0 0 1
ERCC6, ERCC6-PGBD3 0 0 0 0 0 1 0 0 1
ERCC6, ERCC6-PGBD3, PGBD3 1 0 0 0 0 0 0 0 1
EYS 0 1 0 0 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 0 0 1
HTRA1 0 0 0 0 0 1 0 0 1
KCNV2 1 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 1
RAX2 1 0 0 0 0 0 0 0 1
SNRNP200 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign protective risk factor other not provided total
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67 83 27 0 0 0 0 0 177
OMIM 52 0 0 0 2 12 0 0 66
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 15 29 7 0 0 0 0 0 51
NIHR Bioresource Rare Diseases,University of Cambridge 7 35 0 2 0 0 0 0 44
Fulgent Genetics 14 6 17 0 0 0 0 0 37
Human Genetics - Radboudumc,Radboudumc 4 5 2 0 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 0 7
Department of Ophthalmology and Visual Sciences Kyoto University 6 0 0 0 0 0 0 0 6
Illumina Clinical Services Laboratory,Illumina 1 0 3 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 4 0 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 0 0 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Molecular Vision Laboratory 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 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 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 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Servicio Extremeño de Salud,Hospital de Mérida 1 0 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory,Federal University of Parana 0 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab,McGill University Health Centre 1 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.