ClinVar Miner

Variants studied for pancreatic neoplasm

Included ClinVar conditions (37):
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
256 296 742 327 120 7 5 1727

Gene and significance breakdown #

Total genes and gene combinations: 45
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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 38 15 153 38 2 3 2 248
BRCA2 89 16 72 26 17 1 1 222
TP53 15 177 6 5 2 0 0 199
BRCA1 57 5 30 22 18 1 1 133
SMAD4 7 11 21 2 0 0 0 40
STK11 5 3 14 6 0 0 0 28
BRCA1, LOC126862571 10 0 7 2 2 0 0 21
KRAS 5 3 4 6 0 0 1 18
PIK3CA 0 14 0 0 0 0 0 14
GCGR 10 0 1 0 0 0 0 11
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
BEND2, CHD7 0 0 1 0 0 0 0 1
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
MEN1 1 0 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
NEK8 0 1 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
STK33 0 1 0 0 0 0 0 1
TMEM71, TSC1 1 0 0 0 0 0 0 1
TTK 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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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) 0 247 0 0 0 0 1 248
Illumina Laboratory Services, Illumina 0 0 51 15 54 0 0 120
Juno Genomics, Hangzhou Juno Genomics, Inc 34 18 0 0 0 0 0 52
CZECANCA consortium 24 5 0 0 0 0 0 29
OMIM 21 0 0 0 0 7 0 28
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
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 2 0 4 0 0 0 0 6
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
Genome Sciences Centre, British Columbia Cancer Agency 1 0 1 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
Ganetzky Laboratory, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 0 1
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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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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