ClinVar Miner

Variants studied for achromatopsia

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 not provided total
181 91 298 47 60 1 626

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 97 50 116 22 33 0 283
CNGA3 35 23 76 8 7 1 138
PDE6C 12 8 67 11 10 0 105
GNAT2 15 4 25 4 3 0 50
ATF6 13 6 2 1 2 0 24
PDE6H 2 0 11 1 5 0 18
OPN1LW 3 0 0 0 0 0 3
CABP4 1 0 1 0 0 0 2
OPN1MW 2 0 0 0 0 0 2
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 2 235 33 46 0 320
Molecular Genetics Laboratory,Institute for Ophthalmic Research 126 19 22 0 0 0 165
Natera, Inc. 5 1 34 11 16 0 67
Counsyl 2 33 8 0 0 0 43
OMIM 33 0 0 0 0 0 33
Sharon lab,Hadassah-Hebrew University Medical Center 19 10 0 0 0 0 29
Laboratory of Genetics in Ophthalmology,Institut Imagine 11 6 0 0 0 0 17
Mendelics 4 1 1 1 5 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 1 2 0 0 0 9
GeneReviews 7 0 0 0 0 0 7
Baylor Genetics 3 1 2 0 0 0 6
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 2 1 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 2 0 0 0 0 6
Institute of Medical Molecular Genetics, University of Zurich 0 6 0 0 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 3 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 2 1 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 1 0 4
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 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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