Variants studied for nervous system cancer

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	risk factor	other	not provided	total
1284	656	5304	4389	422	9	7	20	11808

Gene and significance breakdown #

Total genes and gene combinations: 111

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	other	not provided	total
SMARCA4	120	56	2041	2261	115	0	0	1	4563
RB1	695	78	1219	907	146	0	0	2	2898
SDHA	159	87	1246	808	53	0	0	9	2301
SDHB	167	66	511	318	20	0	0	1	1054
TP53	18	192	7	5	2	0	0	0	215
BRCA2	65	4	71	26	17	2	0	1	185
ELP4, PAX6	2	0	57	2	37	0	0	0	98
SDHAF2	4	12	42	4	1	0	0	2	63
LOC129929542, SDHB	6	1	27	26	0	0	0	0	60
PIK3CA	0	47	0	0	0	0	0	0	47
PAX6	4	4	15	5	6	0	0	0	34
BAP1	3	0	0	12	12	2	0	0	29
LPAR6, RB1	9	0	1	2	9	0	0	0	21
EGFR	0	13	0	0	0	0	0	0	13
LOC129929541, SDHB	3	0	1	9	0	0	0	0	13
PTEN	0	9	0	0	0	0	0	1	10
DICER1	6	1	2	0	0	0	0	0	9
BRAF	0	8	0	0	0	0	0	0	8
RB1, RB1-DT	0	1	7	0	0	0	0	0	8
MTOR	0	7	0	0	0	0	0	0	7
IDH1	0	5	1	0	0	0	0	1	6
ALK	0	3	2	0	0	0	0	0	5
FBXW7	0	5	0	0	0	0	0	0	5
FGFR1	0	5	0	0	0	0	0	0	5
LOC106014249, PAX6	0	0	4	0	1	0	0	0	5
NRAS	0	5	0	0	0	0	0	0	5
ACVR1	0	4	0	0	0	0	0	0	4
CREBBP	0	4	0	0	0	0	0	0	4
IDH2	0	4	0	0	0	0	0	0	4
ITM2B, MED4, NUDT15, RB1	3	0	1	0	0	0	0	0	4
LOC129929541, LOC129929542, SDHB	2	0	2	0	0	0	0	0	4
MBD4	0	0	0	0	0	4	0	0	4
NF1	0	1	3	0	0	0	0	0	4
COL4A1	1	0	2	0	0	0	0	0	3
COL4A2	0	1	2	0	0	0	0	0	3
GNAQ	0	3	0	0	0	0	0	0	3
H3-3A	0	2	0	0	0	0	1	0	3
HRAS, LRRC56	0	3	0	0	0	0	0	0	3
ITM2B, LPAR6, MED4, NUDT15, RB1	2	0	1	0	0	0	0	0	3
PALB2	0	0	3	0	0	0	0	0	3
POLE	0	1	2	0	0	0	0	0	3
PTCH1	0	0	3	0	0	0	0	0	3
PTPN11	0	3	0	0	0	0	0	0	3
TRIM44	1	0	0	0	2	0	0	0	3
ATM, C11orf65	1	1	0	0	0	0	0	0	2
ATRX	1	0	1	0	0	0	0	0	2
CIC	0	2	0	0	0	0	0	0	2
CTNNB1, LOC126806658	0	2	0	0	0	0	0	0	2
CYP26C1	0	0	0	2	0	0	0	0	2
FANCA	0	0	2	0	0	0	0	0	2
GNA11	0	2	0	0	0	0	0	0	2
H3C11	0	2	0	0	0	0	0	0	2
LOC129929542, LOC129929543, SDHB	2	0	0	0	0	0	0	0	2
LOC130009754, LOC130009755, LPAR6, RB1	2	0	0	0	0	0	0	0	2
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4	1	0	1	0	0	0	0	0	2
MSH2	1	0	1	0	0	0	0	0	2
PIK3R1	0	2	0	0	0	0	0	0	2
PMS2	0	1	1	0	0	0	0	0	2
SMARCB1	0	0	2	0	0	0	0	0	2
ACRBP	0	0	0	0	0	1	0	0	1
ANGPTL8, DOCK6, KANK2, LDLR, SMARCA4, SPC24	0	0	1	0	0	0	0	0	1
AP1B1, ASCC2, CABP7, CASTOR1, CCDC157, DUSP18, EWSR1, GAL3ST1, GAS2L1, HORMAD2, INPP5J, LIF, LIMK2, MORC2, MTFP1, MTMR3, NEFH, NF2, NIPSNAP1, OSBP2, OSM, PATZ1, PES1, PIK3IP1, PLA2G3, RASL10A, RFPL1, RFPL1S, RNF185, RNF215, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SF3A1, SLC35E4, SMTN, TBC1D10A, TCN2, THOC5, TUG1, UQCR10, ZMAT5	0	1	0	0	0	0	0	0	1
APC	0	0	1	0	0	0	0	0	1
ATM	0	0	1	0	0	0	0	0	1
BCOR	0	0	0	0	0	0	1	0	1
BRD7, LOC126862343	0	1	0	0	0	0	0	0	1
BRIP1	0	1	0	0	0	0	0	0	1
CDK4, TSPAN31	0	0	1	0	0	0	0	0	1
CDKN2A	0	0	1	0	0	0	0	0	1
CHD6	0	0	1	0	0	0	0	0	1
CNTNAP3, NTRK2	0	0	1	0	0	0	0	0	1
CYP26A1	0	0	1	0	0	0	0	0	1
DNMT3A	0	1	0	0	0	0	0	0	1
ELP4	0	0	0	0	1	0	0	0	1
ELP4, PAX6DRR	0	0	1	0	0	0	0	0	1
FANCM	0	1	0	0	0	0	0	0	1
FGFR2, ZNF135	0	0	1	0	0	0	0	0	1
FGFR3	0	0	1	0	0	0	0	0	1
FOXO3	0	0	0	0	0	0	1	0	1
ITM2B, LOC124885096, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, RB1, RB1-DT	1	0	0	0	0	0	0	0	1
ITM2B, LPAR6, MED4, NUDT15, RB1, SUCLA2	1	0	0	0	0	0	0	0	1
KDM5B	0	0	1	0	0	0	0	0	1
KIF5C, NTRK3	0	0	1	0	0	0	0	0	1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB	1	0	0	0	0	0	0	0	1
LOC129929542, LOC129929543, PADI2, SDHB	1	0	0	0	0	0	0	0	1
LOC130009754, LOC130009755, RB1	1	0	0	0	0	0	0	0	1
LOC132090076, SOX5	1	0	0	0	0	0	0	0	1
LZTR1	0	1	0	0	0	0	0	0	1
MAX	0	0	1	0	0	0	0	0	1
MED12	0	0	0	0	0	0	1	0	1
MGMT	0	0	0	0	0	0	0	1	1
MUTYH	0	0	1	0	0	0	0	0	1
MYCN, MYCNOS	0	1	0	0	0	0	0	0	1
NBN	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
OPA1	0	0	1	0	0	0	0	0	1
PLCB4	1	0	0	0	0	0	0	0	1
POT1	0	1	0	0	0	0	0	0	1
RAD51B	0	0	1	0	0	0	0	0	1
RET	0	0	1	0	0	0	0	0	1
RNF213	0	0	0	0	0	0	1	0	1
RUNX1	0	0	1	0	0	0	0	0	1
SDHD	1	0	0	0	0	0	0	0	1
SLX4	0	1	0	0	0	0	0	0	1
SPG7	0	0	1	0	0	0	0	0	1
STK11	0	0	0	1	0	0	0	0	1
TMEM127	0	0	1	0	0	0	0	0	1
TSC2	0	0	0	0	0	0	0	1	1
UBE3B	0	0	0	1	0	0	0	0	1
ZMYND11	0	0	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 91

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	other	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	806	167	4780	4226	296	0	0	0	10275
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine	368	31	43	15	1	0	0	0	458
All of Us Research Program, National Institutes of Health	0	0	250	125	31	0	0	0	406
Fulgent Genetics, Fulgent Genetics	91	15	172	61	19	0	0	0	358
Database of Curated Mutations (DoCM)	0	335	0	0	0	0	0	3	337
Baylor Genetics	9	17	253	0	0	0	0	0	279
Illumina Laboratory Services, Illumina	1	2	125	26	66	0	0	0	220
Myriad Genetics, Inc.	94	41	35	9	3	0	0	0	182
KCCC/NGS Laboratory, Kuwait Cancer Control Center	1	3	0	27	57	0	0	0	88
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	24	6	50	2	0	0	0	0	82
Counsyl	2	7	50	13	2	0	0	0	74
OMIM	59	0	0	0	0	8	0	0	67
Mendelics	6	2	17	14	23	0	0	0	62
Color Diagnostics, LLC DBA Color Health	10	4	6	7	23	0	0	0	50
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	26	7	0	0	0	0	0	0	33
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital	0	6	23	0	0	0	0	0	29
Genetics and Molecular Pathology, SA Pathology	18	4	2	0	0	0	0	0	24
Centre for Mendelian Genomics, University Medical Centre Ljubljana	7	1	6	0	0	0	0	0	14
Rare Disease Group, Clinical Genetics, Karolinska Institutet	2	2	7	3	0	0	0	0	14
Center for Human Genetics, Inc, Center for Human Genetics, Inc	8	1	1	0	0	0	0	0	10
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University	10	0	0	0	0	0	0	0	10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	6	2	1	0	0	0	0	0	9
Genome-Nilou Lab	0	0	0	0	9	0	0	0	9
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	0	9	9
MGZ Medical Genetics Center	7	1	0	0	0	0	0	0	8
Donald Williams Parsons Laboratory, Baylor College of Medicine	1	0	0	0	0	0	7	0	8
Genetics Program, Instituto Nacional de Cancer	7	0	0	0	0	0	0	0	7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	6	0	0	0	0	0	0	0	6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	3	2	1	0	0	0	0	0	6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	2	3	0	0	0	0	0	0	5
Genome Sciences Centre, British Columbia Cancer Agency	0	3	2	0	0	0	0	0	5
GenomeConnect, ClinGen	0	0	0	0	0	0	0	5	5
Genetic Services Laboratory, University of Chicago	3	1	0	0	0	0	0	0	4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	2	0	0	0	0	0	0	4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	1	0	1	0	2	0	0	0	4
Revvity Omics, Revvity	0	1	3	0	0	0	0	0	4
Institute of Human Genetics, University of Leipzig Medical Center	1	2	1	0	0	0	0	0	4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	4	0	0	0	0	0	0	0	4
M.M. Shemyakin and Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Science	0	0	4	0	0	0	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	1	0	0	0	0	0	3
Institute of Human Genetics, University Hospital of Duesseldorf	0	2	1	0	0	0	0	0	3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	2	0	1	0	0	0	3
Medgenome Labs Pvt Ltd	1	1	1	0	0	0	0	0	3
deCODE genetics, Amgen	0	3	0	0	0	0	0	0	3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	2	1	0	0	0	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	0	0	0	2
GeneReviews	0	0	0	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	0	0	0	2
Medical Molecular Genetics, University of Birmingham	2	0	0	0	0	0	0	0	2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	1	0	0	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	2	0	0	0	0	0	0	0	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	2	0	0	0	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	1	0	0	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	1	0	0	0	0	0	2
Tampere Brain Tumor Research Consortium, University of Tampere	2	0	0	0	0	0	0	0	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	2	0	0	0	0	0	0	2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	1	1	0	0	0	0	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	1	0	0	0	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	2	0	0	0	0	0	0	0	2
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	2	0	0	0	0	0	0	2
Harbour Laboratory, University of Miami Miller School of Medicine	2	0	0	0	0	0	0	0	2
3billion	1	0	1	0	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	0	0	0	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	1	0	0	0	0	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	0	1	0	0	0	0	1
Tuberous sclerosis database (TSC2)	0	0	0	0	0	0	0	1	1
UCLA Clinical Genomics Center, UCLA	1	0	0	0	0	0	0	0	1
Center for Personalized Medicine, Roswell Park Cancer Institute	0	1	0	0	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	1	0	0	0	0	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	1	0	0	0	0	0	0	0	1
Murat Gunel Laboratory, Yale University	0	1	0	0	0	0	0	0	1
Cancer Genomics Laboratory, Texas Children's Hospital	1	0	0	0	0	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	1	0	0	0	0	1
Michigan Center for Translational Pathology, University of Michigan	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
Division of Medical Genetics, University of Washington	1	0	0	0	0	0	0	0	1
Pediatric Oncology, Johns Hopkins University	0	1	0	0	0	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	1	0	0	0	0	0	0	1
New York Genome Center	0	1	0	0	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	1	0	0	0	0	0	1
Department of Neurosurgery, Guangxi Colleges and Universities Key Laboratory of Preclinical Medicine Research	0	0	0	0	0	1	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	1	0	0	0	0	0	0	0	1
Suma Genomics, Suma Genomics	1	0	0	0	0	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	0	0	0	1
Arcensus	0	1	0	0	0	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	0	0	0	0	0	1
MVZ Medizinische Genetik Mainz	1	0	0	0	0	0	0	0	1

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