ClinVar Miner

Variants studied for benign peripheral nerve sheath tumor

Included ClinVar conditions (17):
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
37 13 35 3 15 100

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SMARCB1 9 1 22 3 15 50
LZTR1 12 7 5 0 0 21
NF1 13 5 0 0 0 18
NF2 3 0 5 0 0 8
DERL3, SMARCB1 0 0 2 0 0 2
PTPN11 0 0 1 0 0 1

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 18 3 15 36
OMIM 15 0 0 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 6 2 0 0 14
Fulgent Genetics,Fulgent Genetics 2 1 5 0 0 8
Invitae 2 0 5 0 0 7
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 6 0 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 3 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics,University of Wuerzburg 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1

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