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
206 67 148 87 81 2 563

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACVRL1 206 67 148 87 81 2 563

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 181 36 96 69 25 0 407
Illumina Laboratory Services,Illumina 0 0 46 10 31 0 87
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 19 5 8 5 39 0 76
Genome-Nilou Lab 0 0 0 0 38 0 38
NIHR Bioresource Rare Diseases, University of Cambridge 10 17 0 3 0 0 30
OMIM 14 0 0 0 0 0 14
Molecular Genetics, Royal Melbourne Hospital 4 1 1 0 0 0 6
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 2 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 3 0 4
PerkinElmer Genomics 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
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 1 0 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 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
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Dpt. of Clinical Genetics, Molecular Genetics Lab 4062, University Hospital of Copenhagen, Rigshospitalet 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1

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