ClinVar Miner

Variants studied for congenital heart defects, multiple types

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 total
46 19 49 27 8 146

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NR2F2 9 4 22 26 4 64
LOC126859827, TAB2 12 10 4 0 0 25
GATA5 4 0 10 0 3 17
TAB2 5 2 5 1 0 12
CERS1, GDF1 1 3 6 0 0 10
PLXND1 4 0 2 0 0 6
SMAD2 5 0 0 0 1 6
CRELD1 2 0 0 0 0 2
BMP7 1 0 0 0 0 1
CERS1, GDF1, UPF1 1 0 0 0 0 1
CHEK2 1 0 0 0 0 1
LOC112872301, PLXND1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 0 17 25 4 48
OMIM 28 0 0 0 0 28
Revvity Omics, Revvity Omics 0 1 12 0 0 13
Baylor Genetics 4 0 7 0 0 11
Fulgent Genetics, Fulgent Genetics 0 1 3 2 1 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 1 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 2 0 0 0 4
Cytogenetics- Mohapatra Lab, Banaras Hindu University 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
3billion 1 1 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Quironsalud Teknon Heart Institute, Quironsalud Teknon Hospital 0 0 1 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1
Pediatric Endocrinology and Metabolic Disease, Anhui Provincial Children’s Hospital 1 0 0 0 0 1

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