ClinVar Miner

Variants studied for Leber congenital amaurosis 6

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 total
56 16 132 27 25 234

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPGRIP1 56 15 132 27 25 233
MKS1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 8 74 20 18 133
Illumina Clinical Services Laboratory,Illumina 0 0 65 8 11 84
Laboratory of Genetics in Ophthalmology,Institut Imagine 28 3 0 0 0 31
Broad Institute Rare Disease Group,Broad Institute 4 2 2 0 0 8
OMIM 7 0 0 0 0 7
Molecular Diagnostics Laboratory,Seoul National University Hospital 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 3
Molecular Genetics Laboratory,Institute for Ophthalmic Research 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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