ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.1749G>A (p.Gln583=) (rs201911915)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568714 SCV000674126 likely benign Hereditary cancer-predisposing syndrome 2017-08-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000121646 SCV000714463 likely benign not specified 2018-01-24 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.
ITMI RCV000121646 SCV000085844 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000465893 SCV000563473 likely benign Neurofibromatosis, type 2 2017-12-18 criteria provided, single submitter clinical testing

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