ClinVar Miner

Variants in gene ACVRL1

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
379 200 259 198 102 3 979

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Telangiectasia, hereditary hemorrhagic, type 2 301 113 169 138 85 3 767
Cardiovascular phenotype 129 64 69 68 11 0 341
not provided 58 31 49 30 32 0 194
not specified 10 2 6 8 13 0 39
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 30 0 0 0 0 0 30
ACVRL1-related condition 5 3 3 8 2 0 21
Pulmonary hypertension, primary, 1 14 0 0 0 0 0 14
Pulmonary arterial hypertension 2 6 1 0 0 0 9
Telangiectasia, hereditary hemorrhagic, type 1 0 5 0 2 0 0 7
Haemorrhagic telangiectasia 2 0 1 1 2 0 0 4
Abnormal bleeding; Thrombocytopenia 0 1 1 0 0 0 2
Hereditary hemorrhagic telangiectasia 0 0 1 1 0 0 2
Inborn genetic diseases 0 0 1 1 0 0 2
ACVRL1-Related Disorders 1 0 0 0 0 0 1
Abnormality of the pulmonary vasculature 1 0 0 0 0 0 1
Lip telangiectasia; Oral cavity telangiectasia; Spontaneous, recurrent epistaxis; Telangiectasia of the skin 0 0 1 0 0 0 1
Pulmonary arterial hypertension; Epistaxis 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2; Hereditary hemorrhagic telangiectasia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 278 70 109 122 27 0 606
Ambry Genetics 129 64 70 69 11 0 343
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 45 11 20 8 45 0 129
GeneDx 30 19 26 16 36 0 127
Illumina Laboratory Services, Illumina 0 0 46 12 31 0 89
Mayo Clinic Laboratories, Mayo Clinic 25 9 5 0 0 0 39
NIHR Bioresource Rare Diseases, University of Cambridge 12 23 0 3 0 0 38
Genome-Nilou Lab 0 0 0 0 38 0 38
Rare Disease Genomics Group, St George's University of London 38 0 0 0 0 0 38
PreventionGenetics, part of Exact Sciences 5 3 3 10 10 0 31
Fulgent Genetics, Fulgent Genetics 6 4 17 1 1 0 29
CeGaT Center for Human Genetics Tuebingen 5 2 7 11 2 0 27
OMIM 16 0 0 0 0 0 16
Clinical Genetics, Academic Medical Center 1 0 0 3 5 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 1 4 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 5 0 7
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 4 0 5
CSER _CC_NCGL, University of Washington 0 1 1 3 0 0 5
Genetics, Medical University of Vienna 0 5 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 3 0 5
Baylor Genetics 1 2 1 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 1 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 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
Birmingham Platelet Group; University of Birmingham 0 1 1 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 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
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 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
Phosphorus, Inc. 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 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
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 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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