ClinVar Miner

Variants studied for Leber congenital amaurosis 2

Included ClinVar conditions (2):
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
52 38 94 40 19 210

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
RPE65 51 38 94 40 19 209
DEPDC1, RPE65 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 10 42 26 14 125
Illumina Clinical Services Laboratory,Illumina 0 0 50 8 7 65
Laboratory of Genetics in Ophthalmology,Institut Imagine 27 22 0 0 0 49
Counsyl 2 0 2 9 2 15
SIB Swiss Institute of Bioinformatics 0 5 4 0 0 9
Mendelics 4 3 1 0 0 8
OMIM 7 0 0 0 0 7
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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