ClinVar Miner

Variants studied for Osler hemorrhagic telangiectasia syndrome

Coded as:
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 total
84 29 202 134 31 462

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 57 14 73 40 14 186
SMAD4 0 0 74 47 8 129
ENG, LOC102723566 27 10 30 19 6 86
ACVRL1 0 5 25 28 3 61

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 130 96 11 237
Invitae 74 18 71 39 20 222
OMIM 9 0 0 0 0 9
Genetics,Medical University of Vienna 0 8 0 0 0 8
Fulgent Genetics 2 1 2 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 1 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 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
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 1

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