ClinVar Miner

Variants studied for Pulmonary hypertension, primary, 1

Coded as:
Minimum submission review status: Collection method:
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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
393 22 181 23 61 34 709

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 357 5 135 20 60 0 572
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: 19
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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
Invitae 10 1 2 0 0 0 13
Center for Genomic Medicine, Kyoto University Graduate School of Medicine 8 1 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 0 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

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