ClinVar Miner

Variants studied for Telangiectasia, hereditary hemorrhagic, type 2

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
303 113 171 138 85 3 770

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACVRL1 302 113 171 138 85 3 769
ACVRL1, LOC130007932 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 279 70 109 119 27 0 604
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 24 6 12 6 41 0 89
Illumina Laboratory Services, Illumina 0 0 46 10 31 0 87
Genome-Nilou Lab 0 0 0 0 38 0 38
NIHR Bioresource Rare Diseases, University of Cambridge 10 17 0 3 0 0 30
Fulgent Genetics, Fulgent Genetics 6 4 17 1 1 0 29
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 6 1 5 4 0 0 16
OMIM 14 0 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 3 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 4 1 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 4 1 1 0 0 0 6
Revvity Omics, Revvity 3 1 1 0 0 0 5
Baylor Genetics 1 2 1 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 3 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Mendelics 0 0 0 0 2 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 1
HHT Research Lab - C. Olivieri, University Of Pavia 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1

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