ClinVar Miner

Variants studied for Osteogenesis imperfecta type I

Coded as:
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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
176 28 75 27 36 342

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
COL1A1 165 27 75 27 36 330
COL1A2 10 1 0 0 0 11
COL1A1, ITGA3, PDK2, PPP1R9B, SAMD14, SGCA 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 104 18 73 27 36 258
Department of Medical Sciences,Uppsala University 64 1 0 0 0 65
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 4 0 0 0 12
OMIM 7 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 1 0 0 0 5
Center for Human Genetics, Inc 0 3 0 0 0 3
Institute of Human Genetics,Cologne University 3 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1

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