ClinVar Miner

Variants studied for Hereditary pancreatitis

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
101 63 1760 1048 112 3 23 2917

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
CPA1 0 2 574 356 7 0 0 936
PRSS1, TRB 17 16 586 287 40 0 5 884
CTRC 20 22 452 278 32 2 3 736
SPINK1 16 9 105 102 16 1 8 218
CFTR 32 12 32 19 12 0 4 102
CFTR, LOC111674477 2 0 1 2 3 0 0 8
CFTR, LOC111674472 3 1 3 2 0 0 0 7
CFTR, LOC111674475 4 0 0 0 0 0 2 6
CFTR, LOC111674463 0 0 1 2 1 0 0 4
CFTR, LOC113633877 1 0 2 0 1 0 0 4
PRSS1 2 0 2 0 0 0 0 4
AGMAT, CASP9, CELA2A, CELA2B, CTRC, DDI2, DNAJC16, PLEKHM2, RSC1A1, SLC25A34 1 0 0 0 0 0 0 1
BMP15 0 1 0 0 0 0 0 1
CFTR, LOC111674468, LOC111674477 1 0 0 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 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 1
EPHB6, TRPV6 0 0 1 0 0 0 0 1
SAR1B 0 0 1 0 0 0 0 1
SPG7 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Ambry Genetics 27 13 1509 872 33 0 0 2454
Labcorp Genetics (formerly Invitae), Labcorp 18 11 421 234 61 2 0 747
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 14 38 41 26 0 0 128
Sema4, Sema4 10 7 34 50 27 0 0 128
Illumina Laboratory Services, Illumina 1 0 28 15 13 0 0 57
Mendelics 28 6 2 1 3 0 0 40
GeneReviews 3 0 0 0 1 1 21 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 8 1 1 3 0 0 25
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 1 4 15 0 0 21
Fulgent Genetics, Fulgent Genetics 1 1 16 0 0 0 0 18
OMIM 15 0 1 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 7 0 8 0 0 0 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 11 1 0 0 0 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 0 2 1 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 0 7 0 0 0 0 9
MGZ Medical Genetics Center 3 0 6 0 0 0 0 9
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1 1 4 1 0 0 0 7
Baylor Genetics 2 2 2 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 1 0 0 0 0 6
Department of Human Genetics, Hannover Medical School 2 1 3 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 3 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 3 0 0 0 0 0 0 3
Department of Genetics, Sultan Qaboos University Hospital 0 0 3 0 0 0 0 3
Eurofins-Biomnis 0 3 0 0 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 1 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 1 0 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 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 1 0 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Revvity Omics, Revvity 0 2 0 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 0 2
3billion 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 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 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1

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