ClinVar Miner

Variants studied for cone-rod dystrophy 13

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 not provided total
96 22 451 281 39 2 851

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
RPGRIP1 95 22 450 281 39 2 849
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 0 0 1 0 0 0 1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 90 16 404 268 37 0 815
Illumina Laboratory Services, Illumina 0 0 63 5 14 0 82
Genome-Nilou Lab 15 3 33 21 3 0 75
Fulgent Genetics, Fulgent Genetics 2 0 3 1 0 0 6
Baylor Genetics 2 0 1 0 0 0 3
3billion 2 0 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.