ClinVar Miner

Variants studied for congenital heart defects, multiple types

Included ClinVar conditions (4):
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
22 5 18 6 2 52

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NR2F2 8 2 12 6 2 30
TAB2 9 3 4 0 0 15
GATA5 4 0 2 0 0 6
CHEK2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 10 6 2 19
OMIM 16 0 0 0 0 16
Baylor Genetics 3 0 4 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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
Undiagnosed Diseases Network,NIH 0 0 1 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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

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