ClinVar Miner

Variants in gene ACVRL1

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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
201 80 152 66 79 2 533

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Telangiectasia, hereditary hemorrhagic, type 2 154 53 124 49 74 2 436
not provided 35 12 27 18 8 0 98
not specified 10 2 5 7 13 0 37
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 30 0 0 0 0 0 30
Primary pulmonary hypertension 1 14 0 0 0 0 0 14
Pulmonary arterial hypertension 2 6 0 0 0 0 8
Hereditary hemorrhagic telangiectasia 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 0 1 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

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 131 31 75 40 15 0 292
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 39 10 13 6 43 0 111
Illumina Clinical Services Laboratory,Illumina 0 0 46 12 31 0 89
GeneDx 24 8 8 4 12 0 56
NIHR Bioresource Rare Diseases, University of Cambridge 12 23 0 3 0 0 38
Medical & Molecular Genetics Group,University of Lincoln 38 0 0 0 0 0 38
OMIM 16 0 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 8 0 0 0 11
PreventionGenetics, PreventionGenetics 0 0 0 2 8 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 1 4 0 7
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 1 0 0 0 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 3 0 4
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
Baylor Genetics 1 0 1 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
Birmingham Platelet Group; University of Birmingham 0 1 1 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
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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