ClinVar Miner

Variants in gene TECTA

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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
32 12 165 82 40 1 286

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 68 61 38 0 158
Nonsyndromic Hearing Loss, Recessive 0 0 68 27 4 0 99
Nonsyndromic Hearing Loss, Dominant 0 0 67 27 4 0 98
not provided 8 7 39 2 2 1 58
Deafness, autosomal dominant 12 12 0 5 0 0 0 17
Nonsyndromic hearing loss and deafness 4 3 0 1 2 0 10
Deafness, autosomal recessive 21 7 0 1 0 0 0 8
Deafness, neurosensory autosomal recessive 21 3 0 0 0 0 0 3
Deafness, autosomal dominant 12; Deafness, autosomal recessive 21 0 0 2 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 2
Congenital sensorineural hearing impairment 0 0 1 0 0 0 1
Deafness 1 0 0 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Sensorineural hearing loss 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 3 65 49 36 0 157
Illumina Clinical Services Laboratory,Illumina 1 0 70 27 4 0 101
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 26 5 8 0 45
GeneDx 3 4 10 14 12 0 43
PreventionGenetics 0 0 0 3 15 0 18
OMIM 12 0 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 8 0 2 0 11
Athena Diagnostics Inc 0 0 2 2 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 0 0 0 3
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 0 3
ClinGen Hearing Loss Variant Curation Expert Panel, 0 0 0 1 2 0 3
Ambry Genetics 0 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Fulgent Genetics 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 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,Baylor College of Medicine 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
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
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 0 1

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