ClinVar Miner

Variants studied for embryonal neoplasm

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 affects protective risk factor other not provided total
555 227 8000 5658 499 1 1 9 31 15 14800

Gene and significance breakdown #

Total genes and gene combinations: 132
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects protective risk factor other not provided total
SMARCA4 138 60 2187 2474 116 0 0 0 1 1 4940
ALK 13 1 2866 1605 97 0 0 4 0 8 4534
SUFU 57 18 569 493 22 0 0 0 0 0 1146
GPC3 45 9 454 309 69 0 0 0 0 0 865
WT1 55 18 419 354 40 0 0 0 0 4 861
LOC107982234, WT1 21 4 468 229 13 0 0 0 0 0 713
ELP1 8 66 248 36 1 0 0 0 0 0 358
BRCA2 124 17 159 28 17 0 0 0 1 1 345
KIF1B 0 1 126 36 55 0 0 0 0 0 218
DICER1 20 9 84 22 20 0 0 0 0 1 155
LOC130004614, SUFU 12 0 76 40 3 0 0 0 0 0 128
PHOX2B 3 2 83 5 21 0 0 2 0 0 115
SMARCB1 13 2 53 5 16 0 0 0 0 0 88
PTCH2 1 0 52 5 1 0 0 0 0 0 58
REST 0 0 51 2 0 0 0 3 0 0 56
LOC110011216, PHOX2B 3 1 10 4 2 0 0 0 0 0 19
GPR161 1 0 10 0 1 0 0 0 0 0 12
CTNNB1, LOC126806658 5 1 0 1 0 0 0 0 7 0 11
TRIM28 1 0 8 0 0 0 0 0 0 0 9
DROSHA 7 0 1 0 0 0 0 0 0 0 8
PALB2 0 0 6 0 0 0 0 0 0 0 6
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 0 0 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
KIF1B, LOC129388447 0 0 2 1 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
TP53 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
EP300 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
MN1 0 0 0 0 0 0 0 0 1 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
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
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
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: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects protective risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 309 83 6665 5388 319 0 0 0 0 0 12764
Fulgent Genetics, Fulgent Genetics 123 77 854 138 22 0 0 0 0 0 1214
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
All of Us Research Program, National Institutes of Health 0 2 173 100 4 0 0 0 0 0 279
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 21 6 154 2 0 0 0 0 0 0 183
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 25 79 0 0 0 0 0 105
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
Juno Genomics, Hangzhou Juno Genomics, Inc 23 11 0 0 0 0 0 0 0 0 34
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 2 0 1 0 0 0 0 0 8
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 Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 3 1 0 0 0 0 0 0 0 7
Center for Precision Oncology and Cancer Prevention, Roswell Park Comprehensive Cancer Center 7 0 0 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
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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 0 0 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 0 0 0 0 2
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
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Institute of Human Genetics, Heidelberg University 1 0 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, Medical Genetics 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
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.