ClinVar Miner

Variants in gene TTR

Minimum submission review status: Collection method:
Minimum conflict level:
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 affects risk factor not provided total
103 81 172 128 35 2 1 5 411

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Amyloidosis, hereditary systemic 1 98 47 117 99 15 0 0 5 350
Cardiovascular phenotype 33 25 66 33 6 0 0 0 163
not provided 27 21 45 32 24 0 0 0 127
not specified 2 1 22 28 20 0 0 0 64
Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1 4 3 28 13 0 0 0 0 47
Cardiomyopathy 3 0 15 5 8 0 0 0 31
Charcot-Marie-Tooth disease 5 2 7 10 5 0 0 0 29
TTR-related disorder 3 0 2 4 2 0 0 0 11
Amyloidosis 2 1 0 0 0 0 0 0 3
Hyperthyroxinemia, dystransthyretinemic 0 1 0 0 0 2 0 0 3
Tip-toe gait 0 2 1 0 0 0 0 0 3
Hereditary amyloidosis 2 0 0 0 0 0 0 0 2
TRANSTHYRETIN POLYMORPHISM 0 0 0 0 2 0 0 0 2
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF 0 0 0 0 0 0 1 0 1
ATTRV122I amyloidosis 1 0 0 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 1 1 0 0 0 0 0 0 0 1
Carpal tunnel syndrome; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis, hereditary systemic 1 1 0 0 0 0 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 0 0 1
Heart failure 0 0 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 75 33 101 92 12 0 0 0 313
Ambry Genetics 32 25 64 33 6 0 0 0 160
GeneDx 13 6 25 20 23 0 0 0 87
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 3 17 12 10 0 0 0 62
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 6 13 15 9 0 0 0 55
OMIM 44 0 0 0 2 2 1 0 49
Fulgent Genetics, Fulgent Genetics 5 2 28 13 0 0 0 0 48
Athena Diagnostics 17 5 10 1 7 0 0 0 40
Molecular Genetics Laboratory, London Health Sciences Centre 5 2 7 10 5 0 0 0 29
Illumina Laboratory Services, Illumina 3 0 14 5 7 0 0 0 29
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 0 15 5 6 0 0 0 28
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 6 5 8 0 0 0 26
Mayo Clinic Laboratories, Mayo Clinic 11 2 9 0 0 0 0 0 22
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 0 6 4 8 0 0 0 21
CeGaT Center for Human Genetics Tuebingen 7 1 6 4 2 0 0 0 20
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 3 6 3 0 0 0 0 16
PreventionGenetics, part of Exact Sciences 3 0 2 4 4 0 0 0 13
Clinical Genetics, Academic Medical Center 2 0 0 3 8 0 0 0 13
Mendelics 9 1 1 1 1 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 5 5 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 2 5 1 0 0 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 4 3 0 0 0 10
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 3 3 0 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 1 3 1 0 0 0 8
Eurofins Ntd Llc (ga) 1 0 4 0 2 0 0 0 7
3billion 4 1 1 0 0 0 0 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 5 0 0 0 6
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 0 1 2 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 2 0 2 0 0 0 4
Revvity Omics, Revvity 1 2 1 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 1 0 1 1 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 3 1 0 0 0 0 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 3 0 0 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 0 0 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 2 1 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 0 0 2
Blueprint Genetics 1 0 1 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 0 2
Amyloidosis Center, Boston University School of Medicine 2 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 2 0 0 0 0 0 0 0 2
DASA 2 0 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 0 0 2
Cohesion Phenomics 0 0 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 1
Genetic Medico-Diagnostic Laboratory Genica 1 0 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 1 0 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 0 0 1

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