ClinVar Miner

Variants studied for malignant pancreatic neoplasm

Included ClinVar conditions (29):
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 risk factor not provided total
212 273 740 327 120 7 5 1658

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 risk factor not provided total
CBR4, PALLD 0 0 228 114 28 0 0 362
PALLD 0 0 196 105 51 1 0 348
PALB2 32 11 153 38 2 3 2 238
TP53 14 177 6 5 2 0 0 198
BRCA2 73 6 72 26 17 1 1 196
BRCA1 51 2 30 22 18 1 1 124
SMAD4 7 10 21 2 0 0 0 39
STK11 4 1 14 6 0 0 0 25
BRCA1, LOC126862571 9 0 7 2 2 0 0 20
KRAS 4 3 4 6 0 0 1 17
PIK3CA 0 14 0 0 0 0 0 14
HRAS, LRRC56 0 10 0 0 0 0 0 10
CTNNB1, LOC126806658 0 9 0 0 0 0 0 9
CDKN2A 0 8 0 0 0 0 0 8
ATM 3 0 4 0 0 0 0 7
ATM, C11orf65 3 1 1 0 0 0 0 5
CHEK2 3 1 0 0 0 0 0 4
BARD1 0 0 3 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 3
POLE 0 3 0 0 0 0 0 3
ACVR1B 2 0 0 0 0 0 0 2
BRIP1 2 0 0 0 0 0 0 2
LOC130062899, STK11 0 0 1 1 0 0 0 2
MAP2K2 0 2 0 0 0 0 0 2
MED12 0 2 0 0 0 0 0 2
RXRA 0 2 0 0 0 0 0 2
U2AF1 0 2 0 0 0 0 0 2
DCTN5, PALB2 1 0 0 0 0 1 0 1
ERBB2 0 1 0 0 0 0 0 1
ERCC4 0 1 0 0 0 0 0 1
FANCE 1 0 0 0 0 0 0 1
FANCG 0 1 0 0 0 0 0 1
HOXB13 0 1 0 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 1
NBN 1 0 0 0 0 0 0 1
POLD1 1 0 0 0 0 0 0 1
RBBP8 1 0 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 373 197 34 0 0 604
Fulgent Genetics, Fulgent Genetics 160 15 279 107 41 0 0 602
Database of Curated Mutations (DoCM) 0 242 0 0 0 0 1 243
Illumina Laboratory Services, Illumina 0 0 51 15 54 0 0 120
CZECANCA consortium 24 5 0 0 0 0 0 29
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 7 15 0 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 6 1 13 1 0 0 0 21
OMIM 13 0 0 0 0 7 0 20
Leiden Open Variation Database 2 0 8 0 0 0 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 3 1 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 3 0 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 2 2 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 2 0 1 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
Laboratory for Clinical Genomics and Advanced Technology, Dartmouth-Hitchcock Medical Center 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1

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