ClinVar Miner

Variants in gene ABCA4

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 other not provided total
1133 851 1334 1360 288 2 516 4247

Condition and significance breakdown #

Total conditions: 72
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 961 400 870 1308 277 1 485 3674
Retinal dystrophy 252 282 294 30 17 0 0 784
Severe early-childhood-onset retinal dystrophy 201 236 66 6 19 1 2 456
ABCA4-related disorder 53 35 135 76 14 0 0 290
Inborn genetic diseases 8 1 155 18 0 0 0 182
Stargardt disease 106 75 11 0 0 0 2 180
not specified 3 5 77 41 55 0 0 173
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 79 61 25 0 5 0 3 167
ABCA4-related retinopathy 74 8 25 10 1 0 0 118
Retinitis pigmentosa 64 41 3 0 0 0 0 107
Cone-rod dystrophy 3 39 28 7 1 15 0 0 88
Retinitis pigmentosa 19 44 26 6 0 15 0 0 87
Age related macular degeneration 2 30 15 16 0 15 0 0 74
Retinal disorder 24 11 4 0 0 0 0 39
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 21 12 3 0 0 0 2 37
Retinitis pigmentosa 40 32 0 2 0 0 0 0 34
Stargardt disease 3 21 6 2 0 0 0 0 29
Cone-rod dystrophy 17 5 4 0 0 0 0 26
Macular dystrophy 8 14 0 1 0 0 0 20
Autosomal recessive retinitis pigmentosa 10 0 0 0 0 0 0 10
Cone dystrophy 7 2 1 0 0 0 0 10
Optic atrophy 2 4 3 0 0 0 0 9
Isolated macular dystrophy 8 0 0 0 0 0 0 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 7 7
Autosomal recessive ABCA4-related disorders 5 1 0 0 0 0 0 6
See cases 6 0 0 0 0 0 0 6
maculopathy 3 3 0 0 0 0 0 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 5 5
Cone-rod dystrophy 3; Retinitis pigmentosa 19 1 0 3 0 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 0 4 4
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 4 0 0 0 0 0 0 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 4 4
autosomal recessive ABCA4-related retinopathy 4 0 0 0 0 0 0 4
Abnormality of the eye 1 2 0 0 0 0 0 3
Familial cancer of breast 0 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 0 3 3
Generalized choriocapillaris dystrophy 2 1 0 0 0 0 0 3
Lung cancer 0 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 0 3 3
Abnormal macular morphology; Peripheral neuropathy 0 0 2 0 0 0 0 2
Abnormal retinal morphology 0 1 1 0 0 0 0 2
Benign concentric annular macular dystrophy 0 2 0 0 0 0 0 2
Bietti crystalline corneoretinal dystrophy 1 0 1 0 0 0 0 2
Cone dystrophy and rod monochromatism 1 0 1 0 0 0 0 2
Cone-rod dystrophy 3; Retinitis pigmentosa 19; Age-related macular degeneration 0 0 0 0 0 0 2 2
Congenital stationary night blindness 1 1 0 0 0 0 0 2
Late-onset cone-rod dystrophy 0 0 1 1 0 0 0 2
Progressive cone dystrophy (without rod involvement) 2 0 0 0 0 0 0 2
Retinal dystrophy, early-onset severe 2 0 0 0 0 0 0 2
Retinitis pigmentosa 1 0 1 1 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 2 2
Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2 0 0 0 0 0 0 2
Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy 1 1 0 0 0 0 0 2
Visual impairment; Retinal disorder 1 0 1 0 0 0 0 2
Vitreoretinopathy 2 0 0 0 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy 0 1 0 0 0 0 0 1
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19; ABCA4-related disorder 0 0 0 0 0 0 1 1
Leber congenital amaurosis 1 0 0 0 0 0 0 1
Leber congenital amaurosis 14 1 0 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Mandibulofacial dysostosis with mental deficiency 1 0 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 0 1 1
Severe early-childhood-onset retinal dystrophy; Stargardt disease 1 0 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Stargardt disease; Cone-rod dystrophy 0 0 0 0 0 0 1 1
Syndromic retinitis pigmentosa 1 0 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
Visual impairment 0 1 0 0 0 0 0 1
Visual loss; Blindness; Macular degeneration 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 136
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 929 259 700 1193 94 0 0 3175
GeneDx 141 85 116 102 226 0 0 670
Retina International 0 0 0 0 0 0 481 481
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 162 172 98 16 0 0 0 448
Blueprint Genetics 139 83 135 0 0 0 0 357
CeGaT Center for Human Genetics Tuebingen 93 33 50 42 5 0 0 223
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 87 47 74 5 4 0 0 217
Ambry Genetics 8 1 155 18 0 0 0 182
Illumina Laboratory Services, Illumina 9 8 125 30 10 0 0 182
PreventionGenetics, part of Exact Sciences 41 21 15 58 31 0 0 166
Fulgent Genetics, Fulgent Genetics 71 55 21 0 5 0 0 152
Eurofins Ntd Llc (ga) 42 4 54 4 29 1 0 134
Dept Of Ophthalmology, Nagoya University 12 6 79 14 17 0 0 128
Breakthrough Genomics, Breakthrough Genomics 0 0 3 42 66 0 0 111
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 74 28 3 0 2 0 0 107
ClinGen ABCA4 Variant Curation Expert Panel, Clingen 71 5 10 10 0 0 0 96
3billion 52 30 10 0 0 0 0 92
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 58 21 2 0 0 0 0 81
Institute of Medical Molecular Genetics, University of Zurich 0 78 0 0 0 0 0 78
NIHR Bioresource Rare Diseases, University of Cambridge 16 58 0 3 0 0 0 76
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 14 14 16 4 16 0 0 64
Mendelics 37 8 7 4 2 0 0 58
Revvity Omics, Revvity 26 14 15 0 0 0 0 55
Sharon lab, Hadassah-Hebrew University Medical Center 31 20 0 0 0 0 0 51
Dasa 48 0 2 0 0 0 0 50
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 16 30 5 0 0 0 0 49
Clinical Genetics, Academic Medical Center 18 3 13 6 8 0 0 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 8 10 4 19 0 0 44
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 15 3 9 6 11 0 0 44
Department of Pathology and Laboratory Medicine, Sinai Health System 7 6 26 1 2 0 0 42
Centre for Mendelian Genomics, University Medical Centre Ljubljana 19 9 14 0 0 0 0 40
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 23 11 4 0 0 0 0 38
OMIM 37 0 0 0 0 0 0 37
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 6 8 1 0 0 0 37
Molecular Genetics Laboratory, Institute for Ophthalmic Research 30 0 1 0 0 0 0 31
Institute of Human Genetics, University of Leipzig Medical Center 19 10 4 0 0 0 0 30
SingHealth Duke-NUS Institute of Precision Medicine 5 25 0 0 0 0 0 30
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 29 29
Ocular Genomics Institute, Massachusetts Eye and Ear 14 7 6 0 0 0 0 27
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 16 4 8 1 0 0 0 26
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 20 5 1 0 0 0 0 26
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 11 10 2 0 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 13 7 3 0 0 0 0 23
DBGen Ocular Genomics 6 9 7 0 0 0 0 22
First Genomix Gene Laboratory, Genetic Diagnostics Department 17 4 0 0 0 0 0 21
Variantyx, Inc. 15 6 0 0 0 0 0 21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 9 4 0 0 0 0 19
Genome-Nilou Lab 3 0 0 0 15 0 0 18
MGZ Medical Genetics Center 9 6 2 0 0 0 0 17
Genomics England Pilot Project, Genomics England 7 10 0 0 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 5 2 0 2 0 0 16
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 7 7 0 0 0 0 0 14
Department of Ophthalmology and Visual Sciences Kyoto University 7 0 0 7 0 0 0 14
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 8 2 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 1 0 10 0 0 13
Dubai Health Genomic Medicine Center, Dubai Health 7 5 0 0 1 0 0 13
Genetics and Molecular Pathology, SA Pathology 9 2 1 0 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 0 11 11
Neuberg Centre For Genomic Medicine, NCGM 7 3 1 0 0 0 0 11
Faculty of Health Sciences, Beirut Arab University 10 0 0 0 0 0 0 10
Molecular Genetics, Royal Melbourne Hospital 6 3 1 0 0 0 0 10
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 8 2 0 0 0 0 0 10
Centre of Medical Genetics, University Hospital Muenster 8 0 0 0 0 0 0 8
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 2 2 0 0 0 0 7
Department of Human Genetics, Hannover Medical School 5 1 1 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 7 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 2 0 0 0 0 0 7
Baylor Genetics 3 2 1 0 0 0 0 6
Department of Ophthalmology, California Pacific Medical Center 2 2 1 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 0 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 4 0 0 0 0 0 5
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 0 5 5
Wuhan Primbio Medical Laboratory 2 2 1 0 0 0 0 5
Arcensus 0 3 1 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 4 0 0 0 0 4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 2 0 0 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 3 1 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 3 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 4 0 0 0 0 0 0 4
OLLIN Analises Genomicas, OLLIN 4 0 0 0 0 0 0 4
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 1 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 2 0 0 0 0 0 3
Rui Chen Lab, Baylor College of Medicine 3 0 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 1 0 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 0 2 0 0 0 0 2
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 2 0 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 1 1 0 0 0 0 0 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 1 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 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 0 1 1 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 0 2
The Cell Therapy Center, The University of Jordan 2 0 0 0 0 0 0 2
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware 0 1 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Karadeniz Technical University 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Human Development and Health, University of Southampton 0 0 0 0 0 0 1 1
Human Molecular Genetics Laboratory, Federal University of Parana 0 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1

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