ClinVar Miner

Variants studied for pulmonary venoocclusive disease

Included ClinVar conditions (3):
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
47 21 37 25 25 151

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
EIF2AK4 31 18 9 15 22 92
BMPR2 16 2 28 10 0 55
EIF2AK4, LOC130056813 0 1 0 0 2 3
BMPR2, LOC129935434 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 6 14 23 45
Fulgent Genetics, Fulgent Genetics 6 1 22 10 2 41
Rare Disease Genomics Group, St George's University of London 20 0 0 0 0 20
NIHR Bioresource Rare Diseases, University of Cambridge 4 14 0 0 0 18
OMIM 15 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 7 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 1 0 0 4
Baylor Genetics 1 0 2 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 1 0 3
Revvity Omics, Revvity 1 0 1 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 1
UF D’onco_angiogenetique Et Genomique Des Tumeurs Solides, APHP Sorbonne Universite Hopital Pitie Salpetriere 0 0 1 0 0 1

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