ClinVar Miner

Variants studied for Stargardt disease

Included ClinVar conditions (9):
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
123 143 48 2 0 1 2 291

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign other not provided total
ABCA4 113 136 39 2 1 2 265
ELOVL4 3 0 2 0 0 0 5
CNGB3 3 0 1 0 0 0 4
PROM1 1 0 3 0 0 0 4
BEST1 1 1 1 0 0 0 3
CRB1 1 0 1 0 0 0 2
CRX 0 2 0 0 0 0 2
ABCA4, LOC112590828 0 1 0 0 0 0 1
EYS 0 1 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 1
KCNV2 1 0 0 0 0 0 1
MFSD8 0 1 0 0 0 0 1
SNRNP200 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign other not provided total
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67 83 27 0 0 0 177
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 15 29 7 0 0 0 51
NIHR Bioresource Rare Diseases,University of Cambridge 7 35 0 2 0 0 44
OMIM 32 0 0 0 0 0 32
Fulgent Genetics 10 5 9 0 0 0 24
Human Genetics - Radboudumc,Radboudumc 1 5 2 0 0 0 8
Department of Ophthalmology and Visual Sciences Kyoto University 6 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 4 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Vision Laboratory 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 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Servicio Extremeño de Salud,Hospital de Mérida 1 0 0 0 0 0 1
Human Molecular Genetics Laboratory,Federal University of Parana 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
Core Molecular Diagnostic Lab,McGill University Health Centre 1 0 0 0 0 0 1

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