ClinVar Miner

Variants studied for Generalized juvenile polyposis/juvenile polyposis coli

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
41 18 232 42 62 5 387

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMAD4 14 8 151 22 43 3 233
BMPR1A 17 7 67 20 18 2 126
BMPR1A, LOC130004245 1 2 8 0 1 0 12
BMPR1A, LOC130004246, LOC130004247 1 0 2 0 0 0 3
STK11 0 1 2 0 0 0 3
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 2 0 0 0 0 0 2
BMPR1A, LOC130004245, LOC130004246, LOC130004247 1 0 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, LOC126860989, LOC126860990, LOC126860991, LOC129390212, LOC129390213, LOC130004245, LOC130004246, LOC130004247, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, LOC130004275, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, LOC126860989, LOC126860990, LOC126860991, LOC129390212, LOC129390213, LOC130004246, LOC130004247, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, LOC130004275, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
BMPR1A, LDB3, MMRN2 1 0 0 0 0 0 1
LOC125371447, LOC130062896, STK11 1 0 0 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 163 13 59 0 235
Counsyl 0 0 40 29 0 0 69
Labcorp Genetics (formerly Invitae), Labcorp 29 7 23 1 0 0 60
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 4 2 0 0 8
Mendelics 1 1 0 0 3 0 5
GeneReviews 0 0 0 0 0 3 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Pathway Genomics 1 1 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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