ClinVar Miner

Variants studied for Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis

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
69 46 297 98 9 513

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 68 44 294 97 9 506
LOC111811965, MIR4733HG, NF1 1 2 3 1 0 7

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 41 29 284 93 0 447
Juno Genomics, Hangzhou Juno Genomics, Inc 26 13 7 0 0 46
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 4 6 8 22
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 0 4 0 1 11
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1

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