ClinVar Miner

Variants in gene PDE6A

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
55 30 291 57 41 2 424

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 29 17 178 42 18 2 275
Retinitis pigmentosa 21 11 120 11 20 0 180
Retinal dystrophy 5 7 17 0 0 0 29
Retinitis pigmentosa 43 9 4 5 1 6 0 25
not specified 0 0 0 2 12 0 13
Retinitis Pigmentosa, Recessive 0 0 10 1 0 0 11
Autosomal recessive retinitis pigmentosa 2 0 0 0 0 0 2
Inborn genetic diseases 2 0 0 0 0 0 2
Leber congenital amaurosis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 7 162 40 18 0 254
Illumina Clinical Services Laboratory,Illumina 0 2 130 12 19 0 163
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 15 0 9 0 28
Blueprint Genetics 5 7 16 0 0 0 28
GeneDx 1 1 5 2 6 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 5 4 4 1 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 2 6 0 12
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 6 0 0 0 0 9
Molecular Genetics Laboratory,Institute for Ophthalmic Research 9 0 0 0 0 0 9
Ocular Genomics Institute, Massachusetts Eye and Ear 3 4 2 0 0 0 9
Sharon lab,Hadassah-Hebrew University Medical Center 6 2 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 5 0 0 0 0 7
Mendelics 5 0 0 0 1 0 6
OMIM 5 0 0 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 2
Faculty of Health Sciences,Beirut Arab University 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Rui Chen Lab,Baylor College of Medicine 1 0 0 0 0 0 1

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