ClinVar Miner

Variants studied for Juvenile myelomonocytic leukemia

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 total
95 58 231 3 28 414

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 77 55 223 0 0 355
CBL 3 2 6 1 15 26
PTPN11 5 0 0 0 13 18
KRAS 4 1 0 0 0 5
ARHGAP26 3 0 0 0 0 3
CBL, LOC130006895 0 0 0 2 0 2
NRAS 2 0 0 0 0 2
ASXL1 0 0 1 0 0 1
EVI2A, NF1 1 0 0 0 0 1
LOC111811965, MIR4733HG, NF1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 75 56 228 0 0 359
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 3 28 32
OMIM 16 0 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 0 0 0 0 6
Mendelics 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1

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