ClinVar Miner

Variants studied for Telangiectasia, hereditary hemorrhagic, type 2

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 not provided total
155 53 124 64 78 2 454

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACVRL1 154 53 124 64 78 2 453
ACVRL1, FH 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 132 31 75 47 19 0 304
Illumina Clinical Services Laboratory,Illumina 0 0 46 10 31 0 87
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 14 5 5 4 39 0 67
NIHR Bioresource Rare Diseases, University of Cambridge 10 17 0 3 0 0 30
OMIM 14 0 0 0 0 0 14
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 5
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Mendelics 0 0 0 0 2 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Blueprint Genetics 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 Fairview: 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

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