ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.313C>T (p.Arg105Trp)

gnomAD frequency: 0.00244  dbSNP: rs139838162
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604563 SCV000728492 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000963954 SCV001111132 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495019 SCV002800653 likely benign Alexander disease 2022-03-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963954 SCV004140700 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing GFAP: BS1

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.