ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1113C>T (p.His371=)

gnomAD frequency: 0.00004  dbSNP: rs150508714
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000804814 SCV000944745 benign Intellectual disability, autosomal dominant 8 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537185 SCV003737953 uncertain significance Inborn genetic diseases 2021-10-19 criteria provided, single submitter clinical testing Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.