ClinVar Miner

Variants in gene SNRNP200

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Minimum submission review status: Collection method:
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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 total
14 13 213 114 30 348

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 5 1 140 93 23 259
Retinitis pigmentosa 7 6 62 18 15 106
Retinal dystrophy 2 3 26 0 0 31
Retinitis pigmentosa 33 3 4 6 4 3 20
not specified 0 0 0 3 6 9
Autosomal dominant retinitis pigmentosa 2 0 0 0 0 2
Rod-cone dystrophy 0 0 2 0 0 2
Inborn genetic diseases 0 0 1 0 0 1
Retinitis Pigmentosa, Dominant 0 0 0 1 0 1
Stargardt disease 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 0 118 92 23 237
Illumina Clinical Services Laboratory,Illumina 0 0 61 18 15 94
Blueprint Genetics 2 3 24 0 0 29
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 11 3 6 20
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 7 3 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 2 4 3 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 6 0 0 6
GeneDx 0 0 5 0 0 5
Molecular Genetics Laboratory,Institute for Ophthalmic Research 4 0 0 0 0 4
Mendelics 1 2 0 1 0 4
OMIM 3 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 2 1 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 1 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 2 0 0 2
Faculty of Health Sciences,Beirut Arab University 2 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1

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