ClinVar Miner

Variants studied for Peutz-Jeghers syndrome

Included ClinVar conditions (2):
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
71 24 347 243 22 1 667

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STK11 63 24 343 242 22 1 654
LOC110006317, LOC110006318, STK11 4 0 1 0 0 0 5
ABCA7, ARHGAP45, ARID3A, CFD, CNN2, ELANE, GPX4, GRIN3B, KISS1R, MED16, POLR2E, R3HDM4, SBNO2, STK11, TMEM259, WDR18 2 0 2 0 0 0 4
CBARP, STK11 0 0 1 1 0 0 2
LOC110006318, STK11 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 50 6 291 185 20 0 552
Counsyl 0 2 59 56 1 0 118
Illumina Clinical Services Laboratory,Illumina 0 0 35 25 2 0 62
Mendelics 1 1 22 0 0 0 24
OMIM 15 0 1 0 0 0 16
Database of Curated Mutations (DoCM) 0 10 0 0 0 0 10
Fulgent Genetics 0 1 6 0 0 0 7
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 Medical Center 0 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 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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