ClinVar Miner

Variants studied for atrioventricular valve anomaly

Included ClinVar conditions (23):
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 not provided total
35 13 264 94 40 1 1 440

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
GATA4 4 1 120 46 24 0 0 190
GATA6 4 0 88 42 14 0 0 146
FLNA 8 5 22 0 0 0 1 35
NR2F2 8 2 12 6 2 0 0 30
DCHS1 3 0 9 0 0 0 0 12
GJA1 2 2 2 0 0 0 0 6
GATA4, LOC110120689, LOC110121280, LOC110121281, LOC111365225, SNORA99 1 0 1 0 0 0 0 2
GATA4, LOC110121280 0 0 2 0 0 0 0 2
LRP1 0 0 2 0 0 0 0 2
SMARCAL1 2 0 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM 1 0 0 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 1
CEP85L, PLN 0 0 1 0 0 0 0 1
CHD7 0 0 1 0 0 0 0 1
DZIP1 1 0 0 0 0 0 0 1
ELN 0 0 1 0 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
MYH7 0 1 0 0 0 0 0 1
NOTCH1 0 0 1 0 0 0 0 1
NR1D2 0 1 0 0 0 0 0 1
TBX5 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 7 1 218 94 39 0 0 359
OMIM 21 0 0 0 0 0 0 21
Baylor Genetics 1 1 12 0 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 4 5 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 0 0 11 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
Mendelics 0 0 1 0 1 0 0 2
GeneReviews 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Human Genetics and Genome Research Division,National Research Centre 0 1 0 0 0 0 0 1
Cardiovascular Research Laboratory,Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 0 1

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