ClinVar Miner

Variants studied for congenital heart defects, multiple types, 4

Included ClinVar conditions (2):
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
14 5 24 32 4 78

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 11 5 23 32 4 74
CRELD1 2 0 0 0 0 2
BMP7 1 0 0 0 0 1
XIRP2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 18 31 4 55
OMIM 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
Cytogenetics- Mohapatra Lab, Banaras Hindu University 3 0 0 0 0 3
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 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
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
3billion, Medical Genetics 0 0 1 0 0 1

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