Variants studied for Neuroblastoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	other	total
1	2	138	42	58	9	250

Gene and significance breakdown #

Total genes and gene combinations: 26

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	total
KIF1B	0	1	125	36	55	0	217
PHOX2B	0	0	1	2	1	0	4
KIF1B, LOC129388447	0	0	2	1	0	0	3
BRCA2	0	0	1	0	0	1	2
KIF1B, LOC126805614	0	0	1	0	1	0	2
KIF1B, LOC129929363	0	0	0	1	1	0	2
ALK	1	0	0	0	0	0	1
FANCA	0	0	1	0	0	0	1
FANCA, ZNF276	0	0	1	0	0	0	1
FGFR3	0	0	0	0	0	1	1
KIF1B, LOC129388446	0	0	0	1	0	0	1
KIF1B, LOC129929365	0	0	1	0	0	0	1
LOC112577475, RBM15	0	0	0	0	0	1	1
LOC130002133, PTCH1	0	0	1	0	0	0	1
MAP2K4	0	0	0	0	0	1	1
MAP2K7	0	0	0	0	0	1	1
MEN1	0	0	1	0	0	0	1
MET	0	0	0	0	0	1	1
MYCN, MYCNOS	0	0	1	0	0	0	1
NTRK2	0	0	0	0	0	1	1
PHF6	0	0	0	0	0	1	1
PINK1	0	0	1	0	0	0	1
SDHC	0	0	0	1	0	0	1
SMARCA4	0	1	0	0	0	0	1
TSC1	0	0	1	0	0	0	1
TSC2	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	total
Illumina Laboratory Services, Illumina	0	0	128	40	58	0	226
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	0	0	9	9
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	1	4	0	0	0	5
Mendelics	0	0	2	1	0	0	3
Department of Pathology and Genetics, University of Gothenburg	1	0	2	0	0	0	3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital	0	0	1	1	0	0	2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	0	1

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