ClinVar Miner

Variants studied for Juvenile polyposis syndrome

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

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
314 82 1424 1130 47 1 2973

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BMPR1A 168 43 837 559 30 1 1616
SMAD4 143 37 587 571 17 0 1352
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 2 0 0 0 0 0 2
BMPR1A, LOC130004245 0 2 0 0 0 0 2
BMPR1A, LDB3, MMRN2, SNCG 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 266 58 1393 1117 38 0 2872
All of Us Research Program, National Institutes of Health 1 1 173 87 5 0 267
Myriad Genetics, Inc. 55 14 18 11 6 0 104
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 15 0 20
OMIM 13 0 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 0 0 0 0 6
MGZ Medical Genetics Center 0 2 3 0 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1

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