ClinVar Miner

Variants studied for congenital diaphragmatic hernia

Included ClinVar conditions (13):
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 risk factor total
21 14 24 3 0 7 63

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
ZFPM2 6 1 4 1 0 11
PLS3 5 3 5 0 0 8
ALDH1A2 4 0 3 0 0 7
MYRF 0 6 0 0 0 6
FREM2 0 2 0 0 2 4
​intergenic 1 0 2 0 0 3
FRAS1 0 0 0 0 3 3
GATA6 3 0 0 0 0 3
LOC126860469, ZFPM2 1 0 1 1 0 3
FGFRL1 0 0 2 0 0 2
CDK8 1 0 0 0 0 1
DEPDC5 0 0 1 0 0 1
DES 0 0 1 0 0 1
FBN1 0 1 0 0 0 1
FREM1 0 0 1 0 0 1
GLI3 0 0 0 0 1 1
LZTR1 0 0 1 0 0 1
MET 0 0 1 0 0 1
MN1 0 0 1 0 0 1
MYO15A 0 0 0 1 0 1
NIPBL 0 1 0 0 0 1
PAX3 0 0 1 0 0 1
ROBO4 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign risk factor total
Daryl Scott Lab, Baylor College of Medicine 2 2 2 0 7 13
OMIM 11 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 4 0 0 7
SIB Swiss Institute of Bioinformatics 0 3 4 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 6
Dobyns Lab, Seattle Children's Research Institute 3 0 0 0 0 3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 2 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 2 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 0 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 1 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1

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