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 not provided total
53 17 231 192 39 7 494

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
AIPL1 52 17 230 192 39 7 492
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
AIPL1, PIMREG, PITPNM3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 41 5 158 181 32 0 417
Illumina Laboratory Services, Illumina 0 0 74 11 11 0 96
Laboratory of Genetics in Ophthalmology, Institut Imagine 17 1 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 1 2 5 0 5 0 13
GeneReviews 0 0 0 0 0 7 7
3billion 1 4 2 0 0 0 7
OMIM 4 0 0 0 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 0 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
DBGen Ocular Genomics 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1

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