ClinVar Miner

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

dbSNP: rs2148494375
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.