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
166 161 57 6 2 1 7 352

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ABCA4 154 154 48 6 2 1 5 322
CNGB3 4 1 1 0 0 0 0 6
ELOVL4 3 0 2 0 0 0 0 5
PROM1 1 0 3 0 0 0 1 5
BEST1 1 1 1 0 0 0 0 3
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
RP1L1 0 0 0 0 0 0 1 1
SNRNP200 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67 83 27 0 0 0 0 177
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
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 0 0 0 0 0 32
Fulgent Genetics,Fulgent Genetics 10 5 9 0 0 0 0 24
Human Genetics - Radboudumc,Radboudumc 1 5 2 0 0 0 0 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 2 0 0 0 0 0 7
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 0 3
Baylor Genetics 1 1 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
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 0 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 0 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
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 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
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

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