ClinVar Miner

Variants studied for Hereditary pancreatitis

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 risk factor not provided total
54 19 179 45 54 1 3 1 318

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CTRC 8 6 71 19 25 1 1 0 120
PRSS1, TRB 16 11 70 14 14 0 0 0 113
SPINK1 17 2 30 12 11 0 2 1 60
CFTR 4 0 5 0 4 0 0 0 13
PRSS1 3 0 0 0 0 0 0 0 3
​intergenic 2 0 0 0 0 0 0 0 2
CFTR, LOC111674475 2 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 1
CFTR, LOC111674472 0 0 1 0 0 0 0 0 1
CFTR, LOC111674477 0 0 1 0 0 0 0 0 1
CFTR, LOC113633877 0 0 1 0 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 17 10 139 19 28 0 3 0 216
Illumina Clinical Services Laboratory,Illumina 1 0 30 15 15 0 0 0 61
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 4 7 12 14 0 0 0 38
GeneReviews 26 0 0 0 3 1 0 0 30
OMIM 15 0 1 0 0 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 6 3 3 1 3 0 0 0 16
Center for Human Genetics, Inc,Center for Human Genetics, Inc 7 0 2 1 0 0 0 0 10
Mendelics 0 1 1 2 5 0 0 0 9
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1 1 4 1 0 0 0 0 7
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 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 2
GenePathDx,Causeway Health Care Private Ltd 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1

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