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
191 244 1032 37 43 1 8 1553

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
MSH6 129 118 600 3 1 0 0 848
MSH3 7 98 331 3 0 0 0 439
DHFR, MSH3 0 15 50 2 1 0 0 68
PMS2 14 3 8 8 16 0 0 49
MLH3 0 2 7 3 22 0 0 34
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
PALB2 0 0 2 4 0 0 0 6
ATM 3 0 2 0 0 0 0 5
CDH1 2 0 3 0 0 0 0 5
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
FBXO11, MSH6 0 1 0 0 0 0 0 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: 25
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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 47 33 21 0 0 154
CZECANCA consortium 31 1 0 0 0 0 0 32
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 0 22 0 0 23
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 8 8
OMIM 8 0 0 0 0 0 0 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 Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 0 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 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
ACT Genomics, 0 0 0 1 0 0 0 1
Department of Pathology, Brigham and Women's Hospital 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 0 1
Martignetti Lab, Icahn School of Medicine at Mount Sinai 0 0 0 0 0 1 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 0 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1

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