ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser)

dbSNP: rs1553145891
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
Genetic Services Laboratory, University of Chicago RCV000503812 SCV000593371 uncertain significance not specified 2017-05-26 criteria provided, single submitter clinical testing
GeneDx RCV001569468 SCV001793552 likely benign not provided 2020-04-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001569468 SCV003207111 benign not provided 2024-10-24 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.