ClinVar Miner

Variants studied for Leber congenital amaurosis 4

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
29 4 137 27 29 205

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
AIPL1 28 4 137 27 29 204
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 0 63 16 18 106
Illumina Clinical Services Laboratory,Illumina 0 0 74 11 11 96
Laboratory of Genetics in Ophthalmology,Institut Imagine 17 1 0 0 0 18
GeneReviews 7 0 0 0 0 7
OMIM 4 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 0 0 0 3
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 1

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