ClinVar Miner

Variants studied for Pulmonary hypertension, primary, 4

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 total
7 1 84 73 6 166

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNK3 7 1 84 73 6 166

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 80 70 5 155
Fulgent Genetics, Fulgent Genetics 0 0 14 7 0 21
OMIM 5 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 1 4
MGZ Medical Genetics Center 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Rare Disease Genomics Group, St George's University of London 1 0 0 0 0 1

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