ClinVar Miner

Variants in gene combination ENG, LOC102723566

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Minimum submission review status: Collection method:
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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
152 55 123 155 35 2 458

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary hemorrhagic telangiectasia 102 19 80 122 23 1 346
Cardiovascular phenotype 56 12 13 34 3 0 118
Telangiectasia, hereditary hemorrhagic, type 1 37 14 26 13 7 1 88
not provided 29 11 14 18 13 0 78
not specified 4 0 7 9 5 0 23
ENG-related condition 2 4 2 2 0 0 10
Haemorrhagic telangiectasia 1 1 0 2 0 0 0 3
Inborn genetic diseases 0 0 3 0 0 0 3
Pulmonary arterial hypertension 0 2 0 0 1 0 3
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 3 0 0 0 0 0 3
Juvenile Polyposis 0 0 1 0 0 0 1
Oral cavity telangiectasia; Palate telangiectasia; Spontaneous, recurrent epistaxis; Pulmonary arteriovenous malformation; Telangiectasia of the skin 1 0 0 0 0 0 1
Pulmonary arterial hypertension associated with congenital heart disease 0 0 1 0 0 0 1
Pulmonary hypertension, primary, 1 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 105 19 80 123 23 0 350
Ambry Genetics 56 12 16 34 3 0 121
GeneDx 17 7 7 13 12 0 56
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 20 1 8 4 9 0 42
NIHR Bioresource Rare Diseases, University of Cambridge 16 6 0 3 0 0 25
Mayo Clinic Laboratories, Mayo Clinic 9 4 5 0 0 0 18
Illumina Laboratory Services, Illumina 0 0 10 6 2 0 18
PreventionGenetics, part of Exact Sciences 2 4 2 6 1 0 15
Genetic Services Laboratory, University of Chicago 2 1 4 1 0 0 8
Fulgent Genetics, Fulgent Genetics 0 3 4 1 0 0 8
CeGaT Center for Human Genetics Tuebingen 1 1 0 5 1 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Eurofins Ntd Llc (ga) 1 0 2 0 2 0 5
CSER _CC_NCGL, University of Washington 1 0 3 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 3 1 0 0 0 0 4
Rare Disease Genomics Group, St George's University of London 4 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 3 0 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 2 1 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 1 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Genetics, Medical University of Vienna 0 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 0 0 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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