ClinVar Miner

Variants in gene DIS3L2

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
32 7 608 193 28 844

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Perlman syndrome 31 6 606 150 28 797
not provided 1 0 6 43 0 50
not specified 0 0 0 0 3 3
Nephroblastoma 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 6 550 186 18 787
Illumina Clinical Services Laboratory,Illumina 0 0 76 7 16 99
Fulgent Genetics,Fulgent Genetics 0 0 14 0 0 14
OMIM 4 0 0 0 0 4
PreventionGenetics,PreventionGenetics 0 0 0 0 3 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
GeneDx 0 0 2 0 0 2
Lineagen, Inc 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 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.