ClinVar Miner

Variants studied for Juvenile polyposis syndrome

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

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
359 92 1633 1404 377 1 3571

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 193 49 951 708 345 1 1973
SMAD4 163 41 680 696 32 0 1591
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 312 63 1571 1340 53 0 3339
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 11 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 5 0 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 4 0 0 7
MGZ Medical Genetics Center 0 2 3 0 0 0 5
3billion 1 1 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 0 0 2
Dasa 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Sfax Medical Genetics Laboratory, Laboratoire Ksentini 0 1 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
Variantyx, Inc. 1 0 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1

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