ClinVar Miner

Variants studied for congenital alveolar capillary dysplasia

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
31 8 9 5 7 59

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FOXF1 26 7 9 5 7 53
​intergenic 3 0 0 0 0 3
ADAD2, ATP2C2, C16orf74, CIBAR2, COTL1, COX4I1, CRISPLD2, DNAAF1, EMC8, GINS2, GSE1, HSDL1, IRF8, KCNG4, KIAA0513, KLHL36, LINC01082, LOC654780, MBTPS1, MEAK7, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C, USP10, WFDC1, ZDHHC7 0 1 0 0 0 1
C16orf74, C16orf95, CIBAR2, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT, ZDHHC7 1 0 0 0 0 1
FENDRR, FOXF1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Stankiewicz Research Laboratory, Baylor College of Medicine 17 0 0 0 0 17
Illumina Clinical Services Laboratory,Illumina 0 0 7 1 3 10
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 4 4 10
OMIM 6 0 0 0 0 6
Clinical Genetics, Erasmus University Medical Center 3 2 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 1 3 0 0 0 4
Baylor Genetics 1 0 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1

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