ClinVar Miner

Variants in gene combination TBCEL-TECTA, TECTA

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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 not provided total
35 27 262 117 48 1 408

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 88 76 39 0 193
Deafness, autosomal dominant 12 13 3 106 26 29 0 176
Deafness, autosomal recessive 21 7 0 131 8 8 0 154
not provided 10 8 54 43 25 1 132
Hearing impairment 0 3 11 1 0 0 15
Rare genetic deafness 3 8 0 0 0 0 11
Nonsyndromic hearing loss and deafness 1 0 0 7 2 0 10
Autosomal recessive nonsyndromic deafness 0 5 0 0 0 0 5
Nonsyndromic Hearing Loss, Dominant 0 0 4 1 0 0 5
Nonsyndromic Hearing Loss, Recessive 0 0 4 1 0 0 5
Deafness, neurosensory autosomal recessive 21 3 0 0 0 0 0 3
Inborn genetic diseases 0 1 2 0 0 0 3
none provided 0 0 0 0 3 0 3
Deafness, autosomal dominant 12; Deafness, autosomal recessive 21 0 0 2 0 0 0 2
Congenital sensorineural hearing impairment 0 0 1 0 0 0 1
Deafness 1 0 0 0 0 0 1
Sensorineural hearing loss 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 8 83 62 37 0 193
Illumina Clinical Services Laboratory,Illumina 1 0 135 30 29 0 152
Invitae 2 0 0 31 21 0 54
GeneDx 3 4 10 20 16 0 53
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 26 5 8 0 45
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 10 3 6 0 20
PreventionGenetics, PreventionGenetics 0 0 0 3 15 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 11 4 0 0 18
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 3 9 1 0 0 13
OMIM 12 0 0 0 0 0 12
Athena Diagnostics Inc 0 0 4 3 5 0 12
ClinGen Hearing Loss Variant Curation Expert Panel 1 0 0 7 2 0 10
Baylor Genetics 1 0 6 0 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 7 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 4 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 5
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 3 0 0 4
Ambry Genetics 0 1 2 0 0 0 3
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1

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