ClinVar Miner

Variants in gene P3H1

Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
22 11 183 80 41 1 295

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Osteogenesis imperfecta type 8 17 6 135 47 27 1 220
not provided 7 2 21 28 10 0 66
Osteogenesis Imperfecta, Recessive 0 1 47 2 1 0 51
not specified 0 0 2 14 18 0 34
Osteogenesis imperfecta type III 0 2 0 0 0 0 2
Osteogenesis imperfecta 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 3 116 57 21 0 206
Illumina Clinical Services Laboratory,Illumina 0 1 60 5 16 0 65
GeneDx 4 1 8 13 25 0 51
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 11 8 13 0 34
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 11 4 2 0 20
OMIM 7 0 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 1 0 0 0 0 2
Paediatric Orthopaedics Research Lab,Christian Medical College 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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