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
361 124 221 159 86 3 900

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 360 124 221 159 86 3 899
ACVRL1, LOC130007932 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 340 75 116 139 28 0 698
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
Fulgent Genetics, Fulgent Genetics 7 10 65 2 1 0 85
Genome-Nilou Lab 0 0 0 0 38 0 38
NIHR Bioresource Rare Diseases, University of Cambridge 10 17 0 3 0 0 30
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 6 1 5 4 0 0 16
OMIM 15 0 0 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 1 1 0 0 0 10
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
Baylor Genetics 2 2 1 0 0 0 5
Revvity Omics, Revvity 3 1 1 0 0 0 5
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
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 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
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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 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, Medical Genetics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 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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