ClinVar Miner

Variants studied for 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
22 7 227 94 40 1 384

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
GATA4 4 1 120 46 24 0 190
GATA6 4 0 88 42 14 0 146
NR2F2 8 2 12 6 2 0 30
GJA1 2 2 2 0 0 0 6
GATA4, LOC110120689, LOC110121280, LOC110121281, LOC111365225, SNORA99 1 0 1 0 0 0 2
GATA4, LOC110121280 0 0 2 0 0 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
CHD7 0 0 1 0 0 0 1
ELN 0 0 1 0 0 0 1
FOXP1 0 0 0 0 0 1 1
NR1D2 0 1 0 0 0 0 1
TBX5 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Invitae 7 1 218 94 39 0 359
OMIM 12 0 0 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 1 0 0 0 5
Fulgent Genetics,Fulgent Genetics 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 1 0 1 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
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 Division,National Research Centre 0 1 0 0 0 0 1
Cardiovascular Research Laboratory,Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 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

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