ClinVar Miner

Variants studied for Amyloidosis, hereditary systemic 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
98 46 123 102 17 5 360

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTR 98 46 118 99 15 5 350
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

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 75 33 106 92 12 0 318
OMIM 43 0 0 0 0 0 43
Illumina Laboratory Services, Illumina 2 0 15 5 7 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 3 0 1 1 0 25
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 2 6 3 0 0 15
Mendelics 9 1 1 1 1 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 0 0 0 0 7
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 0 4 2 0 7
3billion, Medical Genetics 4 1 1 0 0 0 6
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Amyloidosis Center, Boston University School of Medicine 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Genetic Medico-Diagnostic Laboratory Genica 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 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
New York Genome Center 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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