ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3602C>A (p.Ala1201Glu)

dbSNP: rs281875189
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574422 SCV001801241 likely pathogenic not provided 2019-09-22 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002276808 SCV002564462 pathogenic Neurodevelopmental disorder 2021-12-16 criteria provided, single submitter clinical testing

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.