ClinVar Miner

Variants studied for Peutz-Jeghers syndrome

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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
86 24 416 134 5 1 641

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
STK11 76 24 409 133 5 1 623
LOC110006317, LOC110006318, STK11 4 0 4 0 0 0 8
ABCA7, ARHGAP45, ARID3A, CFD, CNN2, ELANE, GPX4, GRIN3B, KISS1R, MED16, POLR2E, R3HDM4, SBNO2, STK11, TMEM259, WDR18 2 0 2 0 0 0 4
LOC110006318, STK11 3 0 0 0 0 0 3
CBARP, STK11 0 0 1 1 0 0 2
LOC110006317, STK11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 7 356 43 0 0 473
Counsyl 0 2 59 56 1 0 118
Illumina Clinical Services Laboratory,Illumina 0 0 35 25 2 0 62
Mendelics 2 1 26 19 2 0 50
OMIM 15 0 1 0 0 0 16
Database of Curated Mutations (DoCM) 0 10 0 0 0 0 10
Pathway Genomics 2 0 4 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 2 2 0 0 0 0 4
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 3 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 2 0 0 2
Zhongshan School of Medicine,Sun Yat-Sen University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus 1 0 0 0 0 0 1
Institutes of Biomedical Sciences,Shanxi University 1 0 0 0 0 0 1

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