ClinVar Miner

Variants studied for Neuroblastoma

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 other not provided total
13 34 137 42 58 9 1 294

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
KIF1B 0 1 125 36 55 0 0 217
ALK 13 9 0 0 0 0 0 22
TP53 0 7 0 0 0 0 0 7
PTPN11 0 6 0 0 0 0 0 6
PHOX2B 0 0 1 2 1 0 0 4
FGFR1 0 3 0 0 0 0 0 3
KIF1B, LOC129388447 0 0 2 1 0 0 0 3
MYC 0 3 0 0 0 0 0 3
PIK3CA 0 3 0 0 0 0 0 3
BRCA2 0 0 1 0 0 1 0 2
KIF1B, LOC126805614 0 0 1 0 1 0 0 2
KIF1B, LOC129929363 0 0 0 1 1 0 0 2
FANCA 0 0 1 0 0 0 0 1
FANCA, ZNF276 0 0 1 0 0 0 0 1
FGFR3 0 0 0 0 0 1 0 1
KIF1B, LOC129388446 0 0 0 1 0 0 0 1
KIF1B, LOC129929365 0 0 1 0 0 0 0 1
LOC112577475, RBM15 0 0 0 0 0 1 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 1
MAP2K4 0 0 0 0 0 1 0 1
MAP2K7 0 0 0 0 0 1 0 1
MEN1 0 0 1 0 0 0 0 1
MET 0 0 0 0 0 1 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 1
NRAS 0 0 0 0 0 0 1 1
NTRK2 0 0 0 0 0 1 0 1
PHF6 0 0 0 0 0 1 0 1
PINK1 0 0 1 0 0 0 0 1
SDHC 0 0 0 1 0 0 0 1
SMARCA4 0 1 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 1
TSC2 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Illumina Laboratory Services, Illumina 0 0 128 40 58 0 0 226
Database of Curated Mutations (DoCM) 12 32 0 0 0 0 1 45
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 9 0 9
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 4 0 0 0 0 5
Mendelics 0 0 2 1 0 0 0 3
Department of Pathology and Genetics, University of Gothenburg 1 0 2 0 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1

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