ClinVar Miner

Variants studied for Endometrial carcinoma

Coded as:
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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
191 243 1024 31 21 1 8 1516

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
MSH6 129 119 600 3 1 0 0 849
MSH3 7 98 329 0 0 0 0 434
DHFR, MSH3 0 15 48 1 1 0 0 65
PMS2 14 3 8 8 16 0 0 49
MSH2 7 1 4 5 1 0 0 18
MLH1 8 0 2 2 1 0 0 13
LOC126807437, MSH3 0 2 7 0 0 0 0 9
BRCA2 4 0 3 1 0 0 0 8
BRCA1 5 0 1 1 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
CDH1, TANGO6 0 1 0 0 0 0 0 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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Baylor Genetics 108 230 975 1 0 0 0 1314
Department of Pathology and Laboratory Medicine, Sinai Health System 46 7 38 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 5 0 0 0 0 6
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 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
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
Solve-RD Consortium 0 1 0 0 0 0 0 1
Martignetti Lab, Icahn School of Medicine at Mount Sinai 0 0 0 0 0 1 0 1

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