ClinVar Miner

Variants studied for chromosome 2P16.3 deletion 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 risk factor total
1 0 19 0 0 1 21

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance risk factor total
NRXN1 1 19 1 21

Submitter and significance breakdown #

Total submitters: 4
Download table as spreadsheet
Submitter pathogenic uncertain significance risk factor total
Fulgent Genetics,Fulgent Genetics 0 16 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 4
OMIM 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 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.