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 17 112 118 65 2 281

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 43 94 48 0 170
not provided 6 9 49 38 31 0 119
Deafness, autosomal recessive 28 14 4 18 3 7 1 46
Hearing impairment 0 2 6 1 0 0 9
Autosomal recessive nonsyndromic deafness 0 2 0 0 0 0 2
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: 33
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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 41 71 33 0 146
GeneDx 3 6 6 30 17 0 62
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 34 10 13 0 61
Invitae 0 1 0 21 26 0 48
PreventionGenetics, PreventionGenetics 0 0 0 3 18 0 21
Athena Diagnostics Inc 0 0 3 5 3 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 3 5 0 11
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 2 6 1 0 0 9
OMIM 8 0 0 0 0 0 8
Baylor Genetics 2 0 5 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 3 1 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 3 1 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 2 0 0 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
Hereditary Research Laboratory, Bethlehem University 3 0 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Ambry Genetics 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 2 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Mayo Clinic 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1

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