ClinVar Miner

Variants studied for Stargardt disease

Included ClinVar conditions (11):
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 other not provided total
202 242 246 49 66 1 7 742

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ABCA4 170 218 56 6 2 1 5 390
PROM1 3 0 56 29 25 0 1 113
CNGB3 2 1 78 8 20 0 0 109
ELOVL4 3 1 39 6 19 0 0 66
PRPH2 19 14 13 0 0 0 0 46
BEST1 1 2 1 0 0 0 0 4
CRB1 1 0 1 0 0 0 0 2
CRX 0 2 0 0 0 0 0 2
ABCA4, LOC112590828 0 1 0 0 0 0 0 1
COL2A1 1 0 0 0 0 0 0 1
EYS 0 1 0 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 0 1
KCNV2 1 0 0 0 0 0 0 1
MFSD8 0 1 0 0 0 0 0 1
RHO 0 0 1 0 0 0 0 1
RP1L1 0 0 0 0 0 0 1 1
SNRNP200 0 0 1 0 0 0 0 1
TULP1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 168 43 64 0 0 275
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67 83 27 0 0 0 0 177
Institute of Medical Molecular Genetics, University of Zurich 0 77 0 0 0 0 0 77
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 15 29 7 0 0 0 0 51
Mendelics 28 6 9 4 2 0 0 49
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 18 14 13 0 0 0 0 45
NIHR Bioresource Rare Diseases, University of Cambridge 7 35 0 2 0 0 0 44
Sharon lab,Hadassah-Hebrew University Medical Center 29 14 0 0 0 0 0 43
OMIM 32 0 1 0 0 0 0 33
Ocular Genomics Institute, Massachusetts Eye and Ear 16 8 7 0 0 0 0 31
Fulgent Genetics,Fulgent Genetics 10 5 9 0 0 0 0 24
Molecular Genetics Laboratory,Institute for Ophthalmic Research 12 0 0 0 0 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 4 0 0 0 0 0 10
Human Genetics - Radboudumc,Radboudumc 1 5 2 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Department of Ophthalmology and Visual Sciences Kyoto University 6 0 0 0 0 0 0 6
Baylor Genetics 3 2 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 0 0 4
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 1 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 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 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 0 1 0 0 0 0 2
Department of Ophthalmology,California Pacific Medical Center 0 1 1 0 0 0 0 2
Molecular Vision Laboratory 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 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 1 0 0 0 0 0 1
Servicio Extremeño de Salud,Hospital de Mérida 1 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory,Federal University of Parana 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 1
Nilou-Genome Lab 1 0 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 0 1

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