ClinVar Miner

Variants in gene TTR

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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 affects risk factor not provided total
60 26 89 43 20 2 1 2 201

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Amyloidogenic transthyretin amyloidosis 54 15 63 13 12 0 0 2 146
not provided 15 9 33 10 7 0 0 0 69
not specified 5 2 16 26 14 0 0 0 56
Charcot-Marie-Tooth disease 4 2 7 10 5 0 0 0 28
Cardiomyopathy 3 0 5 4 8 0 0 0 20
Cardiovascular phenotype 1 0 2 6 4 0 0 0 13
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 6 0 0 0 0 0 0 0 6
Carpal tunnel syndrome; Dystransthyretinemic euthyroidal hyperthyroxinemia; Amyloidogenic transthyretin amyloidosis 3 0 1 0 0 0 0 0 4
Dystransthyretinemic euthyroidal hyperthyroxinemia 0 0 0 0 0 2 0 0 2
TRANSTHYRETIN POLYMORPHISM 0 0 0 0 2 0 0 0 2
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF 0 0 0 0 0 0 1 0 1
ATTRV122I amyloidosis 1 0 0 0 0 0 0 0 1
Amyloid Cardiomyopathy, Transthyretin-related 1 0 0 0 0 0 0 0 1
Anemia; Pancytopenia; Pneumonia; Bone marrow hypocellularity 1 0 0 0 0 0 0 0 1
Autistic behavior; Seizures; Stereotypy; Delayed social development 0 0 1 0 0 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 0 0 1
Carpal tunnel syndrome 0 0 1 0 0 0 0 0 1
Carpal tunnel syndrome, familial 1 0 0 0 0 0 0 0 1
Heart failure 0 0 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy; Subvalvular aortic stenosis 0 0 1 0 0 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Invitae 27 9 48 14 8 0 0 0 106
GeneDx 10 2 16 18 6 0 0 0 52
OMIM 45 0 0 0 2 2 1 0 50
Integrated Genetics/Laboratory Corporation of America 16 3 7 4 8 0 0 0 38
Illumina Clinical Services Laboratory,Illumina 2 0 15 5 7 0 0 0 29
Molecular Genetics Laboratory,London Health Sciences Centre 4 2 7 10 5 0 0 0 28
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 2 7 6 6 0 0 1 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 4 4 2 7 0 0 0 23
Athena Diagnostics Inc 6 2 6 0 6 0 0 0 20
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 2 0 5 4 6 0 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 9 1 0 0 0 0 14
Ambry Genetics 1 0 2 6 4 0 0 0 13
Mendelics 5 1 2 1 0 0 0 0 9
Stanford Center for Inherited Cardiovascular Disease,Stanford University 2 3 3 0 0 0 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 4 0 2 0 0 0 7
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 0 1 2 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 0 0 4
PreventionGenetics,PreventionGenetics 0 0 0 1 2 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 2 0 0 0 0 0 3
Blueprint Genetics 1 0 1 0 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 0 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
Amyloidosis Center,Boston University School of Medicine 1 0 0 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 0 1

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