ClinVar Miner

Variants in gene ACVRL1

Minimum submission review status: Collection method:
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Gene type:
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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
124 33 81 43 28 2 290

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary hemorrhagic telangiectasia type 2 67 13 32 7 12 2 130
not provided 38 12 20 2 5 0 75
Osler hemorrhagic telangiectasia syndrome 0 5 25 28 3 0 61
not specified 13 2 5 7 19 0 44
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
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 56 12 31 6 9 0 114
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 31 5 8 3 18 0 65
Illumina Clinical Services Laboratory,Illumina 0 0 25 28 3 0 56
GeneDx 24 8 8 3 8 0 51
Medical & Molecular Genetics Group,University of Lincoln 38 0 0 0 0 0 38
OMIM 16 0 0 0 0 0 16
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 5 0 0 0 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 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 Miraca Genetics Laboratories, 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
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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