ClinVar Miner

Variants studied for renal cell adenocarcinoma

Included ClinVar conditions (32):
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 other not provided total
112 156 490 119 133 1 1 988

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
MET 8 1 152 40 64 0 1 254
TP53 55 93 76 5 2 0 0 221
FLCN 11 4 70 26 2 0 0 113
ELP4, PAX6 2 0 57 2 37 0 0 98
HNF1A 7 4 35 17 14 0 0 76
PAX6 4 4 16 5 6 0 0 35
HNF1B 10 3 8 10 3 0 0 34
VHL 1 2 27 2 0 0 0 32
LOC107303340, VHL 5 3 13 4 0 0 0 24
MTOR 1 9 0 1 0 0 0 11
PIK3CA 0 10 0 0 0 0 0 10
COMETT, MET 0 0 7 0 1 0 0 8
HNF1B, LOC126862549 1 1 3 3 0 0 0 8
LOC106014249, PAX6 0 0 4 0 1 0 0 5
NRAS 0 5 0 0 0 0 0 5
NFE2L2 0 4 0 0 0 0 0 4
PTEN 0 4 0 0 0 0 0 4
COL4A1 1 0 2 0 0 0 0 3
COL4A2 0 1 2 0 0 0 0 3
ELOC 0 3 0 0 0 0 0 3
TRIM44 1 0 0 0 2 0 0 3
ATM, C11orf65 2 0 0 0 0 0 0 2
C12orf43, HNF1A 0 0 2 0 0 0 0 2
CYP26C1 0 0 0 2 0 0 0 2
RHEB 0 2 0 0 0 0 0 2
ASZ1, CAPZA2, CFTR, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674476, LOC111674478, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219439, LOC113219440, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC116186911, LOC123956215, LOC126860157, LOC126860158, LOC126860159, LOC129999177, LOC129999178, LOC129999179, LOC129999180, LOC129999181, LOC129999182, LOC129999183, LOC129999184, LOC129999185, LOC129999186, LOC129999187, LOC129999188, MET, MIR6132, ST7, ST7-OT3, ST7-OT4, WNT2 0 0 1 0 0 0 0 1
ASZ1, CAPZA2, CFTR, MET, RNU2-1, ST7, ST7-OT3, ST7-OT4, WNT2 0 0 1 0 0 0 0 1
BAP1 0 1 0 0 0 0 0 1
CAMK1, OGG1 0 0 0 1 0 0 0 1
CTNNB1, LOC126806659 0 0 0 0 0 1 0 1
CYP26A1 0 0 1 0 0 0 0 1
DICER1 0 0 1 0 0 0 0 1
DNASE1, TRAP1 0 0 1 0 0 0 0 1
EGF 0 0 1 0 0 0 0 1
ELP4 0 0 0 0 1 0 0 1
ELP4, PAX6DRR 0 0 1 0 0 0 0 1
LOC111365177, LOC113219432, LOC126860158, MET 0 0 1 0 0 0 0 1
LOC132090076, SOX5 1 0 0 0 0 0 0 1
MSH2 0 0 1 0 0 0 0 1
OGG1 1 0 0 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 1
PARP1 0 0 1 0 0 0 0 1
PBRM1 1 0 0 0 0 0 0 1
PRCC 0 0 1 0 0 0 0 1
SDHA 0 0 1 0 0 0 0 1
SDHB 0 0 1 0 0 0 0 1
SF3B1 0 1 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 1
SPG7 0 0 1 0 0 0 0 1
TFE3 0 0 1 0 0 0 0 1
UBE3B 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Fulgent Genetics, Fulgent Genetics 40 14 186 66 5 0 0 311
Illumina Laboratory Services, Illumina 0 0 142 20 102 0 0 264
Baylor Genetics 46 33 78 0 0 0 0 157
Database of Curated Mutations (DoCM) 0 104 0 0 0 0 0 104
Mendelics 3 0 40 18 4 0 0 65
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 30 0 0 38
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 20 0 1 0 0 21
OMIM 19 0 0 0 0 0 0 19
Labcorp Genetics (formerly Invitae), Labcorp 0 0 14 3 0 0 0 17
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 2 7 3 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 1 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 1 0 0 0 0 4
Arora Lab, Fox Chase Cancer Center 0 0 4 0 0 0 0 4
Genome-Nilou Lab 1 0 0 0 3 0 0 4
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Michigan Center for Translational Pathology, University of Michigan 1 1 0 0 0 0 0 2
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 0 1
Myriad Genetics, Inc. 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1

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