ClinVar Miner

Variants studied for Leber congenital amaurosis 3

Coded as:
Minimum submission review status: Collection method:
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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
40 10 214 111 26 4 388

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPATA7 38 10 202 108 24 4 370
LOC130056226, SPATA7 2 0 11 3 2 0 17
EML5, GALC, GPR65, KCNK10, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 5 188 111 24 0 359
Illumina Laboratory Services, Illumina 0 0 38 0 11 0 49
Laboratory of Genetics in Ophthalmology, Institut Imagine 10 0 0 0 0 0 10
OMIM 5 0 0 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Revvity Omics, Revvity Omics 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
DBGen Ocular Genomics 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1

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