ClinVar Miner

Variants studied for Hypertrophic osteoarthropathy, primary, autosomal recessive, 2

Coded as:
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
34 14 8 1 2 54

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLCO2A1 31 14 6 1 2 50
LOC123038185, SLCO2A1 3 0 2 0 0 4

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 33 0 0 0 0 33
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 1 0 0 4
Gastroenterology Department, Qilu Hospital of Shandong University 1 2 1 0 0 4
3billion, Medical Genetics 0 2 1 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 1

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