ClinVar Miner

Variants studied for Familial atrioventricular septal defect

Coded as:
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
0 2 2 0 0 4

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination likely pathogenic uncertain significance total
CHD7 0 1 1
ELN 0 1 1
NR1D2 1 0 1
TBX5 1 0 1

Submitter and significance breakdown #

Total submitters: 3
Download table as spreadsheet
Submitter likely pathogenic uncertain significance total
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 1 0 1
Human Genetics and Genome Research Institute, National Research Centre 1 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.