ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.738G>A (p.Ala246=)

gnomAD frequency: 0.00636  dbSNP: rs147404772
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000675412 SCV001096561 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288191 SCV001475140 benign not specified 2020-03-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675412 SCV001746290 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing GFAP: BP4, BP7, BS2
GeneDx RCV000675412 SCV001839981 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675412 SCV000801089 benign not provided 2017-11-17 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000675412 SCV002036195 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001288191 SCV002037337 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.