ClinVar Miner

Variants in gene CNGA3

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 not provided total
69 46 178 48 18 1 308

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 45 12 110 39 12 0 206
Achromatopsia 2 22 13 72 7 7 1 119
Retinal dystrophy 22 8 6 0 0 0 36
Achromatopsia 21 10 4 1 0 0 33
not specified 0 0 1 4 5 0 9
Cone dystrophy 2 2 0 0 0 0 4
Abnormality of the eye 0 2 0 0 0 0 2
Cone-rod degeneration 1 1 0 0 0 0 2
Monochromacy 0 2 0 0 0 0 2
Abnormality of color vision; Macular degeneration; Photophobia 0 1 0 0 0 0 1
Macular dystrophy 0 0 1 0 0 0 1
maculopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 5 94 36 12 0 184
Illumina Clinical Services Laboratory,Illumina 4 1 72 8 7 0 92
Blueprint Genetics 22 7 4 0 0 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 16 3 2 0 25
Sharon lab,Hadassah-Hebrew University Medical Center 12 9 0 0 0 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 10 2 6 1 0 0 19
Molecular Genetics Laboratory,Institute for Ophthalmic Research 14 3 1 0 0 0 18
OMIM 10 0 0 0 0 0 10
Laboratory of Genetics in Ophthalmology,Institut Imagine 5 4 0 0 0 0 9
GeneDx 4 1 1 0 1 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 1 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 3 0 4
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 2 0 0 0 4
Human Genetics - Radboudumc,Radboudumc 2 0 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 1 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 1 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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