ClinVar Miner

Variants in gene TMC1

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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
36 9 69 38 11 2 150

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 33 25 7 2 64
Nonsyndromic Hearing Loss, Dominant 0 0 16 13 3 0 32
Nonsyndromic Hearing Loss, Recessive 0 0 16 12 3 0 31
not provided 6 2 15 0 2 0 25
Deafness, autosomal recessive 7 19 1 3 0 0 0 22
Rare genetic deafness 12 4 0 0 0 0 16
Deafness 4 0 0 0 0 0 4
Deafness, autosomal dominant 36 3 2 0 0 0 0 4
See cases 1 0 1 2 0 0 4
Deafness, autosomal recessive 7; Deafness, autosomal dominant 36 0 0 3 0 0 0 3
TMC1-Related Disorders 0 0 1 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 12 4 33 19 7 2 77
Illumina Clinical Services Laboratory,Illumina 0 1 19 13 3 0 35
GeneDx 6 1 2 4 6 0 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 11 0 1 0 14
PreventionGenetics 0 0 0 3 6 0 9
OMIM 7 0 0 0 0 0 7
Laboratory of Prof. Karen Avraham,Tel Aviv University 7 0 0 0 0 0 7
Center for Statistical Genetics,Baylor College of Medicine 4 0 0 0 0 0 4
Molecular Diagnostics Laboratory,M Health: 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 0 0 0 2
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 1 0 1 0 0 0 2
Hereditary Research Laboratory,Bethlehem University 2 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 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

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