ClinVar Miner

Variants in gene TRIOBP

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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
19 8 87 99 52 2 239

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 38 89 48 0 160
not provided 6 5 41 15 7 0 73
Deafness, autosomal recessive 28 13 3 11 1 1 1 30
Inborn genetic diseases 0 0 2 0 0 0 2
Deafness 0 0 0 0 0 1 1
Nonsyndromic hearing loss and deafness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 36 66 33 0 136
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 1 34 10 13 0 61
GeneDx 3 3 6 30 17 0 59
PreventionGenetics 0 0 0 3 18 0 21
OMIM 8 0 0 0 0 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 3 1 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 1 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 2 2 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 0 0 3
Hereditary Research Laboratory,Bethlehem University 3 0 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 2 0 0 0 2
Lineagen Inc. 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1

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