ClinVar Miner

Variants studied for atrioventricular valve anomaly

Included ClinVar conditions (19):
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
22 7 108 44 32 1 1 210

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
GATA4 2 1 49 28 21 0 0 97
GATA6 2 0 35 15 9 0 0 61
FLNA 7 2 14 0 0 0 1 23
NR2F2 5 2 3 1 2 0 0 13
DCHS1 2 0 0 0 0 0 0 2
GATA4, LOC110120689, LOC110121280, LOC110121281, LOC111365225, SNORA99 1 0 1 0 0 0 0 2
GATA4, LOC110121280 0 0 2 0 0 0 0 2
GJA1 2 0 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 1
CEP85L, PLN 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
TBX5 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 2 1 87 44 32 0 0 166
OMIM 17 0 0 0 0 0 0 17
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
GeneReviews 2 0 0 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 1 1 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 0 0 1

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