ClinVar Miner

Variants studied for Pulmonary hypertension, primary, 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
396 22 185 23 61 34 716

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 not provided total
BMPR2 360 5 139 20 60 0 579
TBX4 2 17 14 0 0 34 67
SMAD9 0 0 18 0 1 0 19
ACVRL1 14 0 0 0 0 0 14
LOC130009576, SMAD9 0 0 7 1 0 0 8
BMPR2, LOC129935435 6 0 0 0 0 0 6
BMPR2, LOC129935432 0 0 3 1 0 0 4
BMPR2, LOC129935435, LOC129935436 3 0 0 0 0 0 3
BMPR2, LOC129935436 3 0 0 0 0 0 3
PAH 3 0 0 0 0 0 3
ENG 2 0 0 0 0 0 2
SMAD4 0 0 2 0 0 0 2
BMPR2, LOC129388983, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435, NOP58, SNORD11, SNORD11B, SNORD70, SNORD70B 1 0 0 0 0 0 1
BMPR2, LOC129935434 0 0 0 1 0 0 1
ENG, LOC102723566 1 0 0 0 0 0 1
KCNA5 0 0 1 0 0 0 1
KCNK3 1 0 0 0 0 0 1
SMAD1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rare Disease Genomics Group, St George's University of London 368 0 18 0 0 0 386
Illumina Laboratory Services, Illumina 0 0 139 23 61 0 223
Wendy Chung Laboratory, Columbia University Medical Center 2 17 13 0 0 34 66
OMIM 22 0 0 0 0 0 22
Labcorp Genetics (formerly Invitae), Labcorp 10 1 2 0 0 0 13
Center for Genomic Medicine, Kyoto University Graduate School of Medicine 8 1 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Pharmacogenomics Laboratory, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina 2 0 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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