ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val) (rs1567329011)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679998 SCV000807436 uncertain significance Epilepsy, focal, with speech disorder and with or without mental retardation 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 6-year-old male with intellectual disability, regression, epilepsy, mixed tone, joint contractures, failure to thrive, structural brain abnormalities, mild dysmorphisms, microcephaly

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.