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
156 56 130 54 72 2 433

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Telangiectasia, hereditary hemorrhagic, type 2 102 30 103 28 67 2 321
not provided 35 12 24 19 8 0 96
not specified 11 2 5 7 13 0 38
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 30 0 0 0 0 0 30
Primary pulmonary hypertension 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
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 89 25 56 33 15 0 218
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 36 8 10 3 36 0 93
Illumina Clinical Services Laboratory,Illumina 0 0 46 12 31 0 89
GeneDx 24 8 8 4 12 0 56
Medical & Molecular Genetics Group,University of Lincoln 38 0 0 0 0 0 38
OMIM 16 0 0 0 0 0 16
PreventionGenetics,PreventionGenetics 0 0 0 2 8 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 5 0 0 0 8
NIHR Bioresource Rare Diseases, University of Cambridge 2 6 0 0 0 0 8
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
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
Mendelics 0 0 0 0 2 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 2
Baylor Genetics 1 0 0 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 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: 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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