ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp)

dbSNP: rs2148494375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767779 SCV001999573 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506781 SCV002815077 uncertain significance MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 2022-05-18 criteria provided, single submitter clinical testing

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