ClinVar Miner

Variants studied for Leber congenital amaurosis 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
50 16 220 136 28 4 433

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPATA7 48 15 209 132 26 4 414
LOC130056226, SPATA7 2 1 10 4 2 0 18
EML5, GALC, GPR65, KCNK10, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 8 193 135 26 0 402
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
3billion 2 3 0 1 0 0 6
OMIM 5 0 0 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 2 0 0 0 3
Revvity Omics, Revvity 1 2 0 0 0 0 3
DBGen Ocular Genomics 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetic Diseases Diagnosis Center, Ankara Bilkent City Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 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
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.