ClinVar Miner

Variants studied for ATTRV122I amyloidosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
102 61 132 113 18 5 388

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTR 102 61 127 110 15 5 377
DSG2, TTR 0 0 4 0 0 0 4
TTN 0 0 0 1 1 0 2
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 0 0 1 0 0 0 1
MYBPC3 0 0 0 0 1 0 1
MYL3 0 0 0 1 0 0 1
PKP2 0 0 0 1 0 0 1
TNNI3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 79 40 111 98 12 0 340
Fulgent Genetics, Fulgent Genetics 5 2 28 13 0 0 48
OMIM 43 0 0 0 0 0 43
Illumina Laboratory Services, Illumina 3 0 12 5 7 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 3 0 1 1 0 27
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 5 6 3 0 0 18
Mendelics 9 2 1 1 1 0 14
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 0 4 3 0 8
3billion 3 2 2 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 0 0 0 0 7
Institute of Immunology and Genetics Kaiserslautern 3 2 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Amyloidosis Center, Boston University School of Medicine 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 2
Dasa 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 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 1
Genetic Medico-Diagnostic Laboratory Genica 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Pediatric Department, Fayoum Faculty of Medicine 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 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1

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