ClinVar Miner

Variants studied for Hereditary hemorrhagic telangiectasia type 1

Coded as:
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 total
130 46 144 64 31 391

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ENG 90 31 87 40 22 250
ENG, LOC102723566 41 10 30 14 6 97
SMAD4 0 0 27 8 3 38
ACVRL1 0 5 0 2 0 7

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 88 47 12 147
Invitae 48 11 37 4 1 101
NIHR Bioresource Rare Diseases, University of Cambridge 51 18 5 7 1 82
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 4 9 7 20 64
OMIM 9 0 0 0 0 9
Genetics,Medical University of Vienna 0 8 0 0 0 8
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 3
Baylor Genetics 1 0 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 1 0 0 0 2
Mendelics 0 0 1 0 1 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 1
Breda Genetics srl 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 1

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