ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1017G>C (p.Leu339=)

dbSNP: rs769587333
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399048 SCV000453101 uncertain significance Marinesco-Sjögren syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001770278 SCV001994116 uncertain significance not provided 2019-07-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000399048 SCV004354828 likely benign Marinesco-Sjögren syndrome 2022-11-17 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.