ClinVar Miner

Variants studied for familial atrioventricular septal defect

Included ClinVar conditions (11):
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 association total
42 10 588 424 59 1 1113

Gene and significance breakdown #

Total genes and gene combinations: 15
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
GATA4 15 3 308 217 36 0 574
GATA6 10 0 254 180 18 0 457
NR2F2 10 5 22 26 4 0 66
CRELD1 2 0 0 0 0 0 2
GATA4, LOC110120689, LOC110121280, LOC110121281, LOC111365225, LOC129999900, LOC129999901, SNORA99 1 0 1 0 0 0 2
GATA4, LOC110121280 0 0 0 1 1 0 2
SMARCAL1 2 0 0 0 0 0 2
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM 1 0 0 0 0 0 1
BMP7 1 0 0 0 0 0 1
CHD7 0 0 1 0 0 0 1
ELN 0 0 1 0 0 0 1
FOXP1 0 0 0 0 0 1 1
GATA6, MIB1, MIR1-2, MIR133A1 0 0 1 0 0 0 1
NR1D2 0 1 0 0 0 0 1
TBX5 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Invitae 25 3 574 421 58 0 1081
Fulgent Genetics, Fulgent Genetics 0 0 11 5 0 0 16
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
Cytogenetics- Mohapatra Lab, Banaras Hindu University 3 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Human Genetics and Genome Research Institute, National Research Centre 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 1 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
3billion 0 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.