ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.1381-12del

dbSNP: rs537146226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273652 SCV000413614 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000828168 SCV000969850 likely benign not provided 2018-03-21 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.
Invitae RCV002057519 SCV002473834 benign Spastic paraplegia 2023-12-15 criteria provided, single submitter clinical testing

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