ClinVar Miner

Variants studied for achromatopsia 3

Included ClinVar conditions (3):
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
93 67 94 10 24 3 266

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 93 67 94 10 24 3 266

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 72 9 21 0 103
Molecular Genetics Laboratory, Institute for Ophthalmic Research 81 11 6 0 0 0 98
Counsyl 2 33 7 0 0 0 42
Myriad Genetics, Inc. 0 14 2 0 0 0 16
Fulgent Genetics, Fulgent Genetics 5 2 5 0 0 0 12
Genome-Nilou Lab 0 0 1 2 8 0 11
Revvity Omics, Revvity Omics 4 2 0 0 0 0 6
3billion 3 1 2 0 0 0 6
OMIM 5 0 0 0 0 0 5
Mendelics 2 1 0 0 2 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 1 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 5 0 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DBGen Ocular Genomics 0 0 1 0 0 0 1

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