ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4577+11C>G (rs190614908)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215673 SCV000270621 likely benign not specified 2015-10-13 criteria provided, single submitter clinical testing c.4577+11C>G in intron 34 of NF1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 0.12% (83/66726) of European American chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs190614908).
PreventionGenetics,PreventionGenetics RCV000215673 SCV000306268 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000679391 SCV000527010 likely benign not provided 2017-07-28 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660058 SCV000782025 likely benign Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679391 SCV000806282 likely benign not provided 2016-04-12 criteria provided, single submitter clinical testing

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