ClinVar Miner

Variants studied for renal carcinoma

Included ClinVar conditions (38):
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
128 115 2519 1339 669 1 3 4307

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
MET 8 3 1947 1254 599 0 3 3356
TP53 57 60 86 5 2 0 0 203
FLCN 13 8 135 28 2 0 0 186
HNF1A 14 11 95 17 14 0 0 150
ELP4, PAX6 2 1 57 2 37 0 0 98
HNF1B 11 17 49 13 3 0 0 93
VHL 1 2 49 3 0 0 0 55
LOC107303340, VHL 5 3 26 4 0 0 0 38
PAX6 4 5 16 5 6 0 0 36
HNF1B, LOC126862549 1 2 11 3 0 0 0 17
C12orf43, HNF1A 0 0 13 0 0 0 0 13
COMETT, MET 0 0 7 0 2 0 0 9
LOC106014249, PAX6 0 0 4 0 1 0 0 5
COL4A1 1 0 2 0 0 0 0 3
COL4A2 0 1 2 0 0 0 0 3
TRIM44 1 0 0 0 2 0 0 3
ASZ1, CAPZA2, CFTR, MET, RNU2-1, ST7, ST7-OT3, ST7-OT4, WNT2 0 0 2 0 0 0 0 2
ATM, C11orf65 2 0 0 0 0 0 0 2
CAV1, MET 0 0 2 0 0 0 0 2
CYP26C1 0 0 0 2 0 0 0 2
MTOR 1 0 0 1 0 0 0 2
SDHB 1 0 1 0 0 0 0 2
TFE3 1 0 1 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
BAP1 0 1 0 0 0 0 0 1
CAMK1, OGG1 0 0 0 1 0 0 0 1
CHEK2 0 0 1 0 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
LYST 0 1 0 0 0 0 0 1
MSH2 0 0 1 0 0 0 0 1
MYB, NFIB 1 0 0 0 0 0 0 1
MYBL1, NFIB 1 0 0 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
SPG7 0 0 1 0 0 0 0 1
UBE3B 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 1868 1162 59 0 0 3093
Myriad Genetics, Inc. 0 1 0 172 529 0 0 702
Fulgent Genetics, Fulgent Genetics 52 51 451 72 5 0 0 631
Illumina Laboratory Services, Illumina 0 0 142 20 102 0 0 264
Baylor Genetics 46 33 78 0 0 0 0 157
Mendelics 3 0 38 18 7 0 0 66
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 37 0 0 45
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 30 0 1 0 0 31
OMIM 21 0 0 0 0 0 0 21
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 19 0 0 0 0 0 19
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 2 7 3 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 1 1 0 1 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 1 0 0 0 0 7
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 2 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 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
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
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 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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