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
339 86 1541 1318 373 1 3378

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BMPR1A 184 45 903 678 345 1 1892
SMAD4 152 39 636 640 28 0 1479
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
SLC12A1 0 0 2 0 0 0 2
BMPR1A, LDB3, MMRN2, SNCG 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 290 63 1483 1251 49 0 3136
Myriad Genetics, Inc. 57 14 17 139 337 0 564
All of Us Research Program, National Institutes of Health 1 1 210 103 5 0 320
Counsyl 0 0 40 29 0 0 69
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 20 0 25
OMIM 13 0 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 5 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 4 0 0 7
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
MGZ Medical Genetics Center 0 2 3 0 0 0 5
3billion 1 1 2 0 0 0 4
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
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
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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