ClinVar Miner

Variants studied for congenital left-sided heart lesions

Included ClinVar conditions (8):
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 total
8 9 166 48 13 1 244

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
HAND1 0 0 73 39 6 0 118
GJA1 3 0 54 5 6 0 67
NKX2-5 1 1 30 4 1 0 37
NOTCH1 0 4 4 0 0 0 8
​intergenic 0 1 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 1 0 0 0 0 0 1
ARSD, ARSH, ARSL, GYG2 0 0 1 0 0 0 1
C9orf163, INPP5E, NOTCH1, PMPCA, SEC16A 1 0 0 0 0 0 1
CFAP53 0 0 1 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
ETV2 0 1 0 0 0 0 1
ETV2, LOC130064247 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 1
MYH6 0 1 0 0 0 0 1
RBFOX2 0 0 1 0 0 0 1
TBX1 0 0 1 0 0 0 1
TBX20 1 0 0 0 0 0 1
TBX4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Invitae 0 0 73 39 6 0 118
Illumina Laboratory Services, Illumina 0 0 52 5 6 0 63
Fulgent Genetics, Fulgent Genetics 1 1 30 4 1 0 37
University of Washington Center for Mendelian Genomics, University of Washington 0 3 4 0 0 0 7
OMIM 3 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 2
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Department of Medical Genetics, Nizam's Institute of Medical Sciences 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 1 0 0 0 0 0 1

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