ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.469G>A (p.Asp157Asn)

gnomAD frequency: 0.01123  dbSNP: rs59291670
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001646989 SCV000842196 benign not specified 2021-03-25 criteria provided, single submitter clinical testing
Invitae RCV000056886 SCV001728715 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000056886 SCV001872240 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056886 SCV000087999 not provided not provided no assertion provided not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000056886 SCV002036676 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001646989 SCV002037422 benign not specified no assertion criteria provided 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.