ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3197+9dup (rs755212937)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080922 SCV000284429 benign Neurofibromatosis, type 1 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000249416 SCV000306253 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000680361 SCV000571396 likely benign not provided 2017-10-02 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.

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