ClinVar Miner

Variants in gene PCARE

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 total
45 25 354 82 71 539

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 30 6 231 59 32 349
Retinitis pigmentosa 9 5 147 20 46 227
not specified 0 0 3 7 18 28
Retinitis pigmentosa 54 8 6 1 4 6 25
Retinal dystrophy 6 7 5 0 0 18
Autosomal recessive retinitis pigmentosa 5 0 0 0 0 5
Retinitis Pigmentosa, Recessive 0 0 4 1 0 5
Cone-rod degeneration 1 0 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 1
See cases 1 0 0 0 0 1
maculopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 0 208 57 32 320
Illumina Clinical Services Laboratory,Illumina 0 0 150 21 46 217
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 22 7 16 50
Blueprint Genetics 6 7 5 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 4 6 14
Sharon lab,Hadassah-Hebrew University Medical Center 6 1 0 0 0 7
GeneDx 1 3 2 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 3 0 0 6
OMIM 5 0 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 2 2 5
Faculty of Health Sciences,Beirut Arab University 5 0 0 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 2 0 0 3
INSERM U1051, Institut des Neurosciences de Montpellier 1 2 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 0 0 0 3
Molecular Genetics Laboratory,Institute for Ophthalmic Research 2 0 0 0 0 2
Mendelics 0 0 0 1 1 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 0 1 0 0 0 1

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