ClinVar Miner

Variants studied for embryonal neoplasm

Included ClinVar conditions (50):
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 affects protective risk factor other not provided total
453 258 7112 5167 496 1 1 9 31 16 13364

Gene and significance breakdown #

Total genes and gene combinations: 143
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects protective risk factor other not provided total
SMARCA4 120 57 2041 2261 115 0 0 0 1 1 4564
ALK 19 10 2621 1439 97 0 0 4 0 8 4131
SUFU 51 17 524 439 22 0 0 0 0 0 1040
GPC3 43 8 428 297 69 0 0 0 0 0 837
WT1 46 13 393 336 39 0 0 0 0 4 803
LOC107982234, WT1 19 4 444 211 12 0 0 0 0 0 674
KIF1B 0 1 126 36 55 0 0 0 0 0 218
BRCA2 66 5 83 26 17 0 0 0 1 1 198
ELP1 6 14 113 35 1 0 0 0 0 0 168
LOC130004614, SUFU 12 0 71 34 3 0 0 0 0 0 117
PHOX2B 3 2 79 5 21 0 0 2 0 0 111
DICER1 18 7 28 22 20 0 0 0 0 1 95
SMARCB1 11 2 46 5 16 0 0 0 0 0 79
TP53 2 27 0 0 0 0 0 0 0 0 29
CTNNB1, LOC126806658 5 21 0 1 0 0 0 0 7 0 27
LOC110011216, PHOX2B 2 1 10 4 2 0 0 0 0 0 18
PIK3CA 0 14 0 0 0 0 0 0 0 0 14
REST 0 0 8 2 0 0 0 3 0 0 13
PTCH2 1 0 6 4 1 0 0 0 0 0 12
GPR161 1 0 8 0 1 0 0 0 0 0 10
TRIM28 1 0 6 0 0 0 0 0 0 0 7
PALB2 0 0 6 0 0 0 0 0 0 0 6
PTPN11 0 6 0 0 0 0 0 0 0 0 6
FBXW7 0 5 0 0 0 0 0 0 0 0 5
FGFR1 0 5 0 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 0 5
CREBBP 0 4 0 0 0 0 0 0 0 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 0 0 4
NRAS 0 3 0 0 0 0 0 0 0 1 4
SMARCE1 0 0 0 3 1 0 0 0 0 0 4
ALK, CLIP4, PCARE, TOGARAM2, WDR43 0 0 3 0 0 0 0 0 0 0 3
CTNNB1 0 0 0 2 0 0 0 0 1 0 3
DDX3X 0 0 0 0 0 0 0 0 3 0 3
DOCK8 0 0 3 0 0 0 0 0 0 0 3
EP300 0 2 1 0 0 0 0 0 0 0 3
KIF1B, LOC129388447 0 0 2 1 0 0 0 0 0 0 3
MN1 0 2 0 0 0 0 0 0 1 0 3
MYC 0 3 0 0 0 0 0 0 0 0 3
ALK, LOC105374389, LOC122756683, LOC122756684 0 0 2 0 0 0 0 0 0 0 2
ALK, LOC122756683 0 0 2 0 0 0 0 0 0 0 2
APC 1 0 1 0 0 0 0 0 0 0 2
ARID1A 0 0 0 0 0 0 0 0 2 0 2
ARL3, CYP17A1, SFXN2, SUFU, TRIM8, WBP1L 1 0 1 0 0 0 0 0 0 0 2
BAP1 0 1 1 0 0 0 0 0 0 0 2
COL7A1 0 1 1 0 0 0 0 0 0 0 2
DERL3, SMARCB1 0 0 2 0 0 0 0 0 0 0 2
DHCR7 0 1 1 0 0 0 0 0 0 0 2
DIS3L2 0 1 1 0 0 0 0 0 0 0 2
FANCA 0 1 1 0 0 0 0 0 0 0 2
FANCM 0 0 2 0 0 0 0 0 0 0 2
FGFR3 0 1 0 0 0 0 0 0 1 0 2
GLI3 0 0 2 0 0 0 0 0 0 0 2
H19, H19-ICR, MRPL23 2 0 0 0 0 0 0 0 0 0 2
KIF1B, LOC126805614 0 0 1 0 1 0 0 0 0 0 2
KIF1B, LOC129929363 0 0 0 1 1 0 0 0 0 0 2
LOC106707172, LOC107982234, LOC130005479, WT1 2 0 0 0 0 0 0 0 0 0 2
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4 1 0 1 0 0 0 0 0 0 0 2
LOC130065239, TRIM28 0 0 2 0 0 0 0 0 0 0 2
MED12 0 0 1 0 0 0 0 0 1 0 2
MET 0 0 1 0 0 0 0 0 1 0 2
MSH6 0 0 1 0 0 1 0 0 0 0 2
NF1 2 0 0 0 0 0 0 0 0 0 2
POU6F2 2 0 0 0 0 0 0 0 0 0 2
TSC1 0 0 2 0 0 0 0 0 0 0 2
VHL 0 1 1 0 0 0 0 0 0 0 2
ACTR1A, ARL3, AS3MT, ATP5MK, BORCS7, BORCS7-ASMT, C10orf95, CALHM1, CALHM2, CALHM3, CFAP43, CFAP58, CFAP58-DT, CNNM2, COL17A1, CYP17A1, GSTO1, GSTO2, INA, ITPRIP, LINC02620, LOC107984265, LOC110408762, LOC111501773, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC116216120, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121815965, LOC121815966, LOC121815967, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC128772341, LOC129390226, LOC130004609, LOC130004610, LOC130004611, LOC130004612, LOC130004613, LOC130004614, LOC130004615, LOC130004616, LOC130004617, LOC130004618, LOC130004619, LOC130004620, LOC130004621, LOC130004622, LOC130004623, LOC130004624, LOC130004625, LOC130004626, LOC130004627, LOC130004628, LOC130004629, LOC130004630, LOC130004631, LOC130004632, LOC130004633, LOC130004634, LOC130004635, LOC130004636, LOC130004637, LOC130004638, LOC130004639, LOC130004640, LOC130004641, LOC130004642, LOC130004643, LOC130004644, LOC130004645, LOC130004646, LOC130004647, LOC130004648, LOC130004649, LOC130004650, LOC130004651, LOC130004652, LOC130004653, LOC130004654, LOC130004655, LOC130004656, LOC130004657, LOC130004658, LOC130004659, LOC130004660, LOC130004661, LOC130004662, LOC130004663, LOC130004664, LOC130004665, LOC130004666, LOC130004667, LOC130004668, LOC130004669, LOC130004670, MFSD13A, MIR1307, MIR4482, MIR609, MIR936, NEURL1, NT5C2, PCGF6, PDCD11, RPEL1, SFR1, SFXN2, SH3PXD2A, SLK, SORCS3, STN1, SUFU, TAF5, TRIM8, TRIM8-DT, WBP1L 1 0 0 0 0 0 0 0 0 0 1
ANGPTL8, DOCK6, KANK2, LDLR, SMARCA4, SPC24 0 0 1 0 0 0 0 0 0 0 1
ANK3 1 0 0 0 0 0 0 0 0 0 1
ARID1B 0 0 0 0 0 0 0 0 1 0 1
ARID2 1 0 0 0 0 0 0 0 0 0 1
ATM 0 0 1 0 0 0 0 0 0 0 1
ATM, C11orf65 0 0 1 0 0 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 0 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 0 0 0 0 0 1
BRAF 1 0 0 0 0 0 0 0 0 0 1
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6 1 0 0 0 0 0 0 0 0 0 1
CDK4, TSPAN31 0 0 1 0 0 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 0 0 1
CTCF 1 0 0 0 0 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 0 0 0 0 1
DROSHA 0 0 1 0 0 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 0 0 0 0 1
ERG, EWSR1 1 0 0 0 0 0 0 0 0 0 1
EWSR1 0 0 0 0 1 0 0 0 0 0 1
EXT2 0 1 0 0 0 0 0 0 0 0 1
FAH 0 0 1 0 0 0 0 0 0 0 1
FANCA, ZNF276 0 0 1 0 0 0 0 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 0 0 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 0 0 0 0 0 1
FAS 0 0 1 0 0 0 0 0 0 0 1
FH 0 0 1 0 0 0 0 0 0 0 1
FLCN 0 0 1 0 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 0 0 1 0 1
FRMPD1 0 0 1 0 0 0 0 0 0 0 1
FZD6 0 0 0 0 0 0 0 0 1 0 1
GBA1, LOC106627981 0 1 0 0 0 0 0 0 0 0 1
GPC4 0 0 0 0 1 0 0 0 0 0 1
IGF2, INS-IGF2 0 1 0 0 0 0 0 0 0 0 1
JAG1 0 1 0 0 0 0 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 0 0 0 0 1
KDR 0 0 1 0 0 0 0 0 0 0 1
KIF1B, LOC129388446 0 0 0 1 0 0 0 0 0 0 1
KIF1B, LOC129929365 0 0 1 0 0 0 0 0 0 0 1
LMO1 0 0 0 0 0 0 1 0 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 0 0 0 0 0 1
LOC112577475, RBM15 0 0 0 0 0 0 0 0 1 0 1
LOC124416895, LOC130004614, LOC130004615, LOC130004616, SUFU 1 0 0 0 0 0 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 0 0 0 1
MAP2K4 0 0 0 0 0 0 0 0 1 0 1
MAP2K7 0 0 0 0 0 0 0 0 1 0 1
MEN1 0 0 1 0 0 0 0 0 0 0 1
MSH2 0 1 0 0 0 0 0 0 0 0 1
MUTYH 0 0 1 0 0 0 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 0 0 1
NDRG4 0 0 1 0 0 0 0 0 0 0 1
NONO 0 0 0 0 0 0 0 0 1 0 1
NTRK2 0 0 0 0 0 0 0 0 1 0 1
NYNRIN 0 0 1 0 0 0 0 0 0 0 1
PHF6 0 0 0 0 0 0 0 0 1 0 1
PINK1 0 0 1 0 0 0 0 0 0 0 1
PRKAR1A 0 0 0 0 0 0 0 0 1 0 1
RB1 0 0 1 0 0 0 0 0 0 0 1
RECQL 0 0 1 0 0 0 0 0 0 0 1
RECQL4 0 1 0 0 0 0 0 0 0 0 1
REN 0 1 0 0 0 0 0 0 0 0 1
RET 0 0 1 0 0 0 0 0 0 0 1
RHBDF2 0 0 1 0 0 0 0 0 0 0 1
RPS19 0 0 1 0 0 0 0 0 0 0 1
SDHC 0 0 0 1 0 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 0 0 0 1
SH2B3 0 0 1 0 0 0 0 0 0 0 1
SLX4 0 0 1 0 0 0 0 0 0 0 1
SMAD4 0 0 1 0 0 0 0 0 0 0 1
SMO 1 0 0 0 0 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 0 0 1
TERT 1 0 0 0 0 0 0 0 0 0 1
TET2 0 0 0 0 0 0 0 0 1 0 1
TGFBR2 0 0 1 0 0 0 0 0 0 0 1
TSC2 0 0 0 0 0 0 0 0 1 0 1
TUBB4A 0 0 1 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects protective risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 277 78 6216 4907 316 0 0 0 0 0 11794
Illumina Laboratory Services, Illumina 0 1 392 125 182 0 0 0 0 0 700
Baylor Genetics 10 12 642 0 0 0 0 0 0 0 664
Fulgent Genetics, Fulgent Genetics 77 16 281 132 22 0 0 0 0 0 528
All of Us Research Program, National Institutes of Health 0 2 139 84 4 0 0 0 0 0 229
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 11 5 119 2 0 0 0 0 0 0 137
Database of Curated Mutations (DoCM) 13 106 0 0 0 0 0 0 0 1 120
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 25 79 0 0 0 0 0 104
OMIM 44 0 0 0 0 0 0 9 0 0 53
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 1 14 38 0 0 0 0 0 0 0 53
Donald Williams Parsons Laboratory, Baylor College of Medicine 3 1 0 0 0 0 0 0 31 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 5 21 0 0 0 0 0 29
Mendelics 2 0 15 7 3 0 0 0 0 0 27
Genome-Nilou Lab 0 0 0 0 18 0 0 0 0 0 18
Integrative Tumor Epidemiology Branch, National Institutes of Health 1 0 16 0 0 0 0 0 0 0 17
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 12 1 1 1 0 0 0 0 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 11 0 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 9 0 0 0 0 0 12
Color Diagnostics, LLC DBA Color Health 0 0 0 2 8 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 0 0 0 0 9 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 7 0 1 0 0 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 6 0 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 2 0 0 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 3 1 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 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 5 5
MGZ Medical Genetics Center 0 2 2 0 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 1 0 0 0 0 0 0 0 0 4
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 3 1 0 0 0 0 0 0 0 0 4
Laboratory of Neurooncology, Almazov National Medical Research Centre 3 0 1 0 0 0 0 0 0 0 4
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 1 0 0 0 0 0 0 0 0 4
Athena Diagnostics 0 0 0 0 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 0 0 0 3
Department of Pathology and Genetics, University of Gothenburg 1 0 2 0 0 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 1 0 0 0 0 0 0 0 3
Molecular Oncology Initiative, University of California, San Francisco 3 0 0 0 0 0 0 0 0 0 3
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 2 0 0 0 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 0 0 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 0 2 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 1 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 0 0 0 2
Tampere Brain Tumor Research Consortium, University of Tampere 2 0 0 0 0 0 0 0 0 0 2
Cancer Genomics Laboratory, Texas Children's Hospital 1 0 0 0 0 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 1 0 0 0 0 0 0 0 0 0 1
NPCF Sunshine Lab, H. Lee Moffitt Cancer Center and Research Institute 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 0 1
3billion 0 0 0 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 0 0 1

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