Variants studied for nervous system benign neoplasm

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	association	other	not provided	total
36	16	56	15	2	9	3	1	135

Gene and significance breakdown #

Total genes and gene combinations: 24

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	other	not provided	total
TP53	18	10	19	5	2	0	0	0	54
HRAS, LRRC56	8	4	12	4	0	0	0	1	26
KRAS	5	1	13	6	0	0	0	0	25
CLDN14	0	0	2	0	0	2	0	0	4
NRAS	2	0	1	0	0	0	0	0	3
EPHB4	0	0	0	0	0	2	0	0	2
KEL	0	0	0	0	0	2	0	0	2
PCSK7	0	0	2	0	0	0	0	0	2
TSC1	0	0	2	0	0	0	0	0	2
APC	1	0	0	0	0	0	0	0	1
ERCC2	0	1	0	0	0	0	0	0	1
FOXO3	0	0	0	0	0	0	1	0	1
GLI2	0	0	1	0	0	0	0	0	1
KAT6A	0	0	0	0	0	1	0	0	1
KMT2D	0	0	0	0	0	1	0	0	1
LOC107303340, VHL	1	0	0	0	0	0	0	0	1
LOC130002133, PTCH1	0	0	1	0	0	0	0	0	1
NF1	0	0	1	0	0	0	0	0	1
NF2	0	0	0	0	0	0	1	0	1
NSD1	0	0	0	0	0	0	1	0	1
PTCH1	0	0	1	0	0	0	0	0	1
SMARCA2	0	0	0	0	0	1	0	0	1
SUFU	0	0	1	0	0	0	0	0	1
VHL	1	0	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	other	not provided	total
Fulgent Genetics, Fulgent Genetics	20	9	44	15	2	0	0	0	90
Yale Center for Mendelian Genomics, Yale University	0	0	0	0	0	9	0	0	9
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	1	1	6	0	0	0	0	0	8
OMIM	7	0	0	0	0	0	0	0	7
Juno Genomics, Hangzhou Juno Genomics, Inc	4	2	0	0	0	0	0	0	6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	3	0	0	0	0	0	4
Clinical Genomics Laboratory, Washington University in St. Louis	1	0	2	0	0	0	0	0	3
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	0	0	0	3	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	2	0	1	0	0	0	0	0	3
Solve-RD Consortium	0	2	0	0	0	0	0	0	2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	1	0	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	0	0	0	1
Michigan Center for Translational Pathology, University of Michigan	1	0	0	0	0	0	0	0	1
Cancer medicine, Gaomi People's Hospital	1	0	0	0	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	0	0	0	1
3billion, Medical Genetics	1	0	0	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	0	1	1
Suma Genomics	1	0	0	0	0	0	0	0	1

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