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
52 19 70 31 17 2 1 1 155

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Amyloidogenic transthyretin amyloidosis 46 9 40 8 6 0 0 1 102
not provided 14 9 29 3 8 0 0 0 60
not specified 0 1 15 23 13 0 0 0 45
Cardiomyopathy 2 0 6 1 5 0 0 0 14
Cardiovascular phenotype 1 0 4 4 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
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
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

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Invitae 15 5 29 7 6 0 0 0 62
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 15 2 10 2 8 0 0 0 37
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 2 7 6 6 0 0 1 26
Athena Diagnostics Inc 6 2 5 0 5 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 3 1 1 5 0 0 0 13
Ambry Genetics 1 0 4 4 4 0 0 0 13
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 2 0 6 1 3 0 0 0 12
Illumina Clinical Services Laboratory,Illumina 1 0 10 0 0 0 0 0 11
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
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 0 0 4
PreventionGenetics 0 0 0 1 2 0 0 0 3
Blueprint Genetics, 1 0 1 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 0 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

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