ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1749G>A (p.Gln583=) (rs201911915)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465893 SCV000563473 benign Neurofibromatosis, type 2 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568714 SCV000674126 likely benign Hereditary cancer-predisposing syndrome 2017-08-07 criteria provided, single submitter clinical testing 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121646 SCV001158311 likely benign not specified 2019-04-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171722 SCV001334553 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
ITMI RCV000121646 SCV000085844 not provided not specified 2013-09-19 no assertion provided reference population

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