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 total
137 21 378 206 22 750

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BMPR1A 41 10 236 93 14 386
SMAD4 95 10 142 113 8 362
​intergenic 1 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 70 16 368 188 20 662
Counsyl 0 0 40 29 0 69
ARUP Institute,ARUP Laboratories 58 0 0 0 3 61
OMIM 13 0 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 1 2 0 0 0 3
GeneReviews 3 0 0 0 0 3
Pathway Genomics 1 1 0 0 0 2
University of Washington Department of Laboratory Medicine,University of Washington 0 1 0 1 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 1

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