ClinVar Miner

Variants studied for Hereditary pancreatitis

Coded as:
Minimum submission review status: Collection method:
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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 established risk allele likely risk allele risk factor not provided total
96 50 1288 802 112 3 1 1 2 22 2212

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele likely risk allele risk factor not provided total
PRSS1, TRB 17 15 425 227 39 0 0 0 0 4 673
CPA1 0 1 405 260 7 0 0 0 0 0 671
CTRC 19 16 324 223 33 2 0 0 0 3 556
SPINK1 16 8 92 67 16 1 1 1 2 8 177
CFTR 30 9 33 19 12 0 0 0 0 4 99
CFTR, LOC111674477 2 0 1 2 3 0 0 0 0 0 8
CFTR, LOC111674472 2 1 3 2 0 0 0 0 0 0 6
CFTR, LOC111674475 4 0 0 0 0 0 0 0 0 2 6
CFTR, LOC111674463 0 0 1 2 1 0 0 0 0 0 4
CFTR, LOC113633877 1 0 2 0 1 0 0 0 0 0 4
PRSS1 2 0 0 0 0 0 0 0 0 0 2
AGMAT, CASP9, CELA2A, CELA2B, CTRC, DDI2, DNAJC16, PLEKHM2, RSC1A1, SLC25A34 1 0 0 0 0 0 0 0 0 0 1
CFTR, LOC111674468, LOC111674477 1 0 0 0 0 0 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 0 0 0 0 0 0 0 0 0 1 1
CLEC5A, MGAM, MTRNR2L6, OR9A4, PRSS1, PRSS37, PRSS58, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TRB 1 0 0 0 0 0 0 0 0 0 1
EPHB6, TRPV6 0 0 1 0 0 0 0 0 0 0 1
SAR1B 0 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele likely risk allele risk factor not provided total
Ambry Genetics 27 14 1050 627 33 0 0 0 0 0 1751
Invitae 17 11 339 204 60 2 0 0 1 0 634
Sema4, Sema4 10 7 34 50 27 0 0 0 0 0 128
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 7 24 30 23 0 0 0 0 0 92
Illumina Laboratory Services, Illumina 1 0 30 15 15 0 0 0 0 0 61
Mendelics 28 5 3 1 3 0 0 0 0 0 40
GeneReviews 3 0 0 0 1 1 0 0 0 21 26
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 4 14 0 0 1 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 7 1 1 3 0 0 0 0 0 19
OMIM 15 0 1 0 0 0 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 4 1 6 0 0 0 0 0 0 0 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 0 2 1 0 0 0 0 0 0 10
MGZ Medical Genetics Center 3 0 6 0 0 0 0 0 0 0 9
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1 1 4 1 0 0 0 0 0 0 7
Baylor Genetics 2 2 2 0 0 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 1 0 0 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 3 0 0 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 1 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 3 0 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 3 0 0 0 0 0 0 0 3
Eurofins-Biomnis 0 3 0 0 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 0 1 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 0 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 0 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 0 0 0 1

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