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
99 57 1539 933 112 3 1 1 2 23 2586

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 2 482 316 7 0 0 0 0 0 804
PRSS1, TRB 17 15 520 252 40 0 0 0 0 5 790
CTRC 20 21 394 254 32 2 0 0 0 3 654
SPINK1 15 7 99 86 16 1 1 1 2 8 196
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 27 13 1287 755 33 0 0 0 0 0 2115
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 14 0 0 0 0 0 59
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 11 1 0 0 0 0 0 0 13
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
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 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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