ClinVar Miner

Variants studied for ATTRV122I amyloidosis

Included ClinVar conditions (5):
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
94 38 113 93 18 5 327

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 94 38 110 90 15 5 318
DSG2, TTR 0 0 2 0 0 0 2
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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 70 27 93 79 12 0 281
Fulgent Genetics, Fulgent Genetics 5 2 21 12 0 0 40
OMIM 39 0 0 0 0 0 39
Illumina Laboratory Services, Illumina 2 0 15 5 7 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 3 0 1 1 0 22
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 2 6 3 0 0 14
Mendelics 9 1 1 1 1 0 13
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 1 0 0 4 3 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 0 0 0 0 7
3billion 4 1 1 0 0 0 6
MGZ Medical Genetics Center 1 1 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Amyloidosis Center, Boston University School of Medicine 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 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
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
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
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
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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