ClinVar Miner

Variants studied for malignant mixed neoplasm

Included ClinVar conditions (17):
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 risk factor other not provided total
184 205 1353 872 138 3 6 5 2714

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
GPC3 43 8 428 297 69 0 0 0 837
WT1 46 13 393 336 39 0 0 4 803
LOC107982234, WT1 19 4 444 211 12 0 0 0 674
BRCA2 65 4 70 26 17 0 0 1 183
TP53 0 111 0 0 0 0 0 0 111
PIK3CA 0 22 0 0 0 0 0 0 22
FBXW7 0 15 0 0 0 0 0 0 15
REST 0 0 8 2 0 3 0 0 13
TRIM28 1 0 6 0 0 0 0 0 7
ERBB3 0 5 0 0 0 0 0 0 5
PPP2R1A 0 5 0 0 0 0 0 0 5
PTEN 0 5 0 0 0 0 0 0 5
HRAS, LRRC56 0 3 0 0 0 0 0 0 3
POLE 0 3 0 0 0 0 0 0 3
CTNNB1, LOC126806658 0 0 0 0 0 0 2 0 2
H19, H19-ICR, MRPL23 2 0 0 0 0 0 0 0 2
LOC106707172, LOC107982234, LOC130005479, WT1 2 0 0 0 0 0 0 0 2
LOC130065239, TRIM28 0 0 2 0 0 0 0 0 2
MED12 0 0 1 0 0 0 1 0 2
POU6F2 2 0 0 0 0 0 0 0 2
U2AF1 0 2 0 0 0 0 0 0 2
BRAF 1 0 0 0 0 0 0 0 1
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6 1 0 0 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 1
CTNNB1 0 0 0 0 0 0 1 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 0 0 1
DIS3L2 0 1 0 0 0 0 0 0 1
ERBB2 0 1 0 0 0 0 0 0 1
FGFR2 0 1 0 0 0 0 0 0 1
FZD6 0 0 0 0 0 0 1 0 1
GPC4 0 0 0 0 1 0 0 0 1
IGF2, INS-IGF2 0 1 0 0 0 0 0 0 1
PIK3R1 0 1 0 0 0 0 0 0 1
SMAD4 0 0 1 0 0 0 0 0 1
TET2 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 99 17 1146 800 100 0 0 0 2162
Fulgent Genetics, Fulgent Genetics 71 5 117 56 18 0 0 0 267
All of Us Research Program, National Institutes of Health 0 2 139 84 4 0 0 0 229
Database of Curated Mutations (DoCM) 0 174 0 0 0 0 0 0 174
Illumina Laboratory Services, Illumina 0 0 72 14 25 0 0 0 111
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 0 24 0 0 0 0 0 27
Genome-Nilou Lab 0 0 0 0 18 0 0 0 18
OMIM 13 0 0 0 0 3 0 0 16
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 10 0 0 0 13
Mendelics 0 0 11 0 1 0 0 0 12
Baylor Genetics 4 2 4 0 0 0 0 0 10
Color Diagnostics, LLC DBA Color Health 0 0 0 2 8 0 0 0 10
Donald Williams Parsons Laboratory, Baylor College of Medicine 2 1 0 0 0 0 6 0 9
Athena Diagnostics 0 0 0 0 3 0 0 0 3
GeneReviews 0 0 0 0 0 0 0 3 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 1 0 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 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 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 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 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 1 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 1
3billion 0 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Laan Lab, Human Genetics Research Group, University of Tartu 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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