ClinVar Miner

Variants studied for Melanoma-pancreatic cancer syndrome

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 not provided total
20 29 49 38 16 1 136

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKN2A 19 28 44 34 14 1 124
CDKN2A, LOC130001603 1 1 5 4 2 0 12

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 3 23 20 6 0 56
Myriad Genetics, Inc. 6 17 19 6 8 0 56
Mendelics 1 2 10 18 5 0 36
Department of Pathology and Laboratory Medicine, Sinai Health System 7 9 9 1 1 0 27
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 9 0 0 0 10
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 5 0 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 5 1 0 0 0 0 6
OMIM 3 0 0 0 0 0 3
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genetics Department, Catlab 0 1 0 0 0 0 1

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