ClinVar Miner

Variants studied for Hereditary pancreatitis

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 established risk allele likely risk allele risk factor not provided total
98 56 1488 905 113 3 1 1 2 23 2511

Gene and significance breakdown #

Total genes and gene combinations: 18
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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
CPA1 0 1 461 306 7 0 0 0 0 0 773
PRSS1, TRB 17 15 506 246 40 0 0 0 0 5 771
CTRC 19 21 380 247 33 2 0 0 0 3 633
SPINK1 15 7 97 81 16 1 1 1 2 8 192
CFTR 31 11 33 19 12 0 0 0 0 4 102
CFTR, LOC111674477 2 0 1 2 3 0 0 0 0 0 8
CFTR, LOC111674472 3 1 3 2 0 0 0 0 0 0 7
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 2 0 0 0 0 0 0 0 4
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
SPG7 1 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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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 26 13 1232 724 33 0 0 0 0 0 2028
Labcorp Genetics (formerly Invitae), Labcorp 17 11 394 223 61 2 0 0 1 0 709
Sema4, Sema4 10 7 34 50 27 0 0 0 0 0 128
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 13 34 35 25 0 0 0 0 0 116
Illumina Laboratory Services, Illumina 1 0 29 15 15 0 0 0 0 0 60
Mendelics 28 6 2 1 3 0 0 0 0 0 40
GeneReviews 3 0 0 0 1 1 0 0 0 21 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 7 1 1 3 0 0 0 0 0 23
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 4 15 0 0 1 0 0 21
Fulgent Genetics, Fulgent Genetics 1 1 16 0 0 0 0 0 0 0 18
OMIM 15 0 1 0 0 0 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 7 0 8 0 0 0 0 0 0 0 15
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 6 0 0 0 1 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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 0 0 0 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
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
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 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, Medical Genetics 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 0 0 0 1

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