ClinVar Miner

Variants studied for BAP1-related tumor predisposition syndrome

Included ClinVar conditions (1):
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
111 25 529 233 37 913

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BAP1 105 25 527 232 36 903
BRCA2 2 0 0 0 1 3
PALB2 2 0 0 0 0 2
PMS2 1 0 1 0 0 2
BAP1, DNAH1 1 0 0 0 0 1
BRIP1 0 0 1 0 0 1
NF1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 96 25 491 221 22 855
Illumina Clinical Services Laboratory,Illumina 0 0 34 13 26 73
Mendelics 1 0 13 2 1 17
OMIM 10 0 0 0 0 10
Ambry Genetics 5 0 2 1 1 9
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 5 7
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 4
Baylor Genetics 0 0 3 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1

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