ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) (rs201824349)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130727 SCV000185616 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000204801 SCV000259332 likely benign Neurofibromatosis, type 1 2018-01-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501885 SCV000595979 uncertain significance not specified 2017-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515212 SCV000611410 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000501885 SCV000723561 likely benign not specified 2017-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034591 SCV000043395 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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