ClinVar Miner

Variants studied for primary hypertrophic osteoarthropathy

Included ClinVar conditions (6):
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
48 15 55 12 15 140

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HPGD 12 2 48 11 13 85
SLCO2A1 33 13 5 1 2 51
LOC123038185, SLCO2A1 3 0 2 0 0 4

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 46 9 12 67
OMIM 41 0 0 0 0 41
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 3 1 0 0 6
3billion 0 2 2 2 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 2 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 1 1 4
Genome-Nilou Lab 0 0 0 0 4 4
Gastroenterology Department, Qilu Hospital of Shandong University 1 2 1 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Division of Pediatric Nephrology, Shenzhen Children's Hospital 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Department of Rheumatology and Immunology, Wuhan Children's Hospital 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 1
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 1 0 0 0 0 1

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