ClinVar Miner

Variants in gene TMC1

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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
93 49 212 357 71 3 715

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 62 23 119 334 63 0 582
Autosomal recessive nonsyndromic hearing loss 7 25 7 60 3 5 0 99
not specified 1 0 40 21 7 2 71
Autosomal dominant nonsyndromic hearing loss 36 6 3 39 9 13 0 68
Inborn genetic diseases 0 0 19 0 0 0 19
Hearing loss, autosomal recessive 0 16 0 0 0 0 16
Rare genetic deafness 12 4 0 0 0 0 16
TMC1-related condition 2 1 5 6 1 0 15
Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 0 0 5 0 0 1 6
Deafness 4 0 0 0 0 0 4
Hearing impairment 2 1 1 0 0 0 4
Nonsyndromic Hearing Loss, Dominant 0 0 1 2 0 0 3
See cases 1 0 1 1 0 0 3
Nonsyndromic Hearing Loss, Recessive 0 0 1 1 0 0 2
Nonsyndromic genetic hearing loss 1 1 0 0 0 0 2
Bilateral sensorineural hearing impairment; Delayed speech and language development; Intellectual disability, moderate 1 0 0 0 0 0 1
Ear malformation 1 0 0 0 0 0 1
TMC1-Related Disorders 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 14 64 278 15 0 428
GeneDx 9 8 59 63 53 0 192
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 4 39 20 7 2 84
Illumina Laboratory Services, Illumina 0 1 51 13 13 0 61
PreventionGenetics, part of Exact Sciences 2 1 5 8 7 0 23
Ambry Genetics 0 0 19 0 0 0 19
University of Washington Center for Mendelian Genomics, University of Washington 0 16 0 0 0 0 16
Eurofins Ntd Llc (ga) 1 1 11 0 1 0 14
Athena Diagnostics Inc 2 1 3 1 3 0 10
CeGaT Center for Human Genetics Tuebingen 0 0 4 3 3 0 10
OMIM 8 0 0 0 0 0 8
Laboratory of Prof. Karen Avraham, Tel Aviv University 7 0 0 0 0 0 7
3billion 2 1 3 0 0 0 6
Revvity Omics, Revvity 3 0 2 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 1 0 1 0 4
King Laboratory, University of Washington 2 2 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 4
Center for Statistical Genetics, Columbia University 4 0 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 3 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 2 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 0 2 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
National Institute on Deafness and Communication Disorders, National Institutes of Health 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 1 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 0 0 0 2
Genome-Nilou Lab 1 0 0 0 1 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 1 1 0 0 0 0 2
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
ISCA Site 6 0 0 0 1 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
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

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