ClinVar Miner

Variants studied for Endometrial carcinoma

Coded as:
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 association not provided total
184 220 675 30 21 1 8 1137

Gene and significance breakdown #

Total genes and gene combinations: 37
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
MSH6 122 105 393 3 1 0 0 622
MSH3 7 92 204 0 0 0 0 303
PMS2 14 2 9 8 16 0 0 49
DHFR, MSH3 0 14 32 0 1 0 0 47
MSH2 7 1 4 5 1 0 0 18
MLH1 8 0 2 2 1 0 0 13
BRCA2 4 0 3 1 0 0 0 8
BRCA1 5 0 1 1 0 0 0 7
LOC126807437, MSH3 0 2 5 0 0 0 0 7
MLH3 0 1 4 1 0 0 0 6
PALB2 0 0 2 4 0 0 0 6
ATM 3 0 2 0 0 0 0 5
CDH1 2 0 2 0 0 0 0 4
CHEK2 2 0 2 0 0 0 0 4
LOC129933707, MSH6 0 0 4 0 0 0 0 4
PTEN 4 0 0 0 0 0 0 4
EGFR 0 0 0 0 0 0 3 3
POLD1 0 0 1 2 0 0 0 3
APC 0 0 2 0 0 0 0 2
ATM, C11orf65 0 0 1 1 0 0 0 2
FGFR2 2 0 0 0 0 0 0 2
KRAS 0 0 0 0 0 0 2 2
PIK3CA 0 1 0 0 0 0 1 2
ABCA3, BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, LOC112340386, LOC112340387, LOC129390754, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, MIR1225, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR6511B1, MIR940, MLST8, PGP, PKD1, RAB26, RNPS1, SNHG19, SNORD60, TRAF7, TSC2 0 0 1 0 0 0 0 1
ALK, ARHGEF33, ATL2, BIRC6, CAPN13, CAPN14, CDC42EP3, CDKL4, CEBPZ, CRIM1, CYP1B1, DHX57, DPY30, EHD3, EIF2AK2, EML4, FAM98A, FEZ2, GALM, GALNT14, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, LBH, LCLAT1, LINC02898, LTBP1, MAP4K3, MEMO1, MORN2, NDUFAF7, NLRC4, PKDCC, PRKD3, QPCT, RASGRP3, RMDN2, SLC30A6, SLC8A1, SOS1, SOS1-IT1, SPAST, SRD5A2, SRSF7, STRN, SULT6B1, THUMPD2, TMEM178A, TTC27, VIT, XDH, YIPF4, YPEL5 0 1 0 0 0 0 0 1
AREL1, MLH3 1 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 1 0 1
BARD1 1 0 0 0 0 0 0 1
BRAF 0 0 0 0 0 0 1 1
ERBB2 0 0 0 0 0 0 1 1
FGFR3, LOC116158483, LOC129992009, LOC129992010, LOC129992011, LOC129992012, TACC3 0 1 0 0 0 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 0 0 1
MUTYH 1 0 0 0 0 0 0 1
POLE 0 0 0 0 1 0 0 1
RAD51C 1 0 0 0 0 0 0 1
STK11 0 0 0 1 0 0 0 1
TP53 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Baylor Genetics 101 209 623 0 0 0 0 933
Department of Pathology and Laboratory Medicine, Sinai Health System 46 6 39 27 20 0 0 138
CZECANCA consortium 31 1 0 0 0 0 0 32
OMIM 8 0 0 0 0 0 0 8
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 8 8
Mendelics 6 0 1 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 1 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 5 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 4 0 0 0 0 5
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 0 3
Precision Medicine Oncology, Rutgers Cancer Institute of New Jersey 0 2 1 0 0 0 0 3
CSER _CC_NCGL, University of Washington 1 0 0 1 0 0 0 2
Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute 2 0 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Department of Pathology, Brigham and Women's Hospital 0 1 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 0 0 0 0 1
Martignetti Lab, Icahn School of Medicine at Mount Sinai 0 0 0 0 0 1 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.