ClinVar Miner

Variants studied for familial atrioventricular septal defect

Included ClinVar conditions (12):
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
48 11 686 494 59 1 1287

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
GATA4 18 3 374 262 36 0 688
GATA6 12 1 283 199 18 0 507
NR2F2 11 5 23 32 4 0 74
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
BLK, CTSB, FDFT1, GATA4, NEIL2 0 0 1 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
XIRP2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Labcorp Genetics (formerly Invitae), Labcorp 30 3 668 491 58 0 1250
Fulgent Genetics, Fulgent Genetics 0 1 16 5 0 0 22
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 0 4
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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, Medical Genetics 0 0 1 0 0 0 1

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