ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn)

gnomAD frequency: 0.00023  dbSNP: rs200483534
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 RCV001703502 SCV000514781 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Invitae RCV000864515 SCV001005325 benign Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2020-09-10 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.