ClinVar Miner

Variants studied for Cenani-Lenz syndactyly syndrome

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
16 11 525 442 59 1 996

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
LRP4 16 11 517 439 57 1 983
LOC130005663, LRP4 0 0 4 3 0 0 7
LOC130005664, LRP4 0 0 4 0 2 0 6

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 5 426 418 46 0 903
Illumina Laboratory Services, Illumina 0 0 122 18 22 0 162
Fulgent Genetics, Fulgent Genetics 1 3 102 36 2 0 144
OMIM 8 0 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics, Charité Universitaetsmedizin Berlin 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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.