ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)

gnomAD frequency: 0.00543  dbSNP: rs57474185
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210687 SCV000263019 likely benign Inborn genetic diseases 2013-05-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000056852 SCV000511158 likely benign not provided 2016-12-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000056852 SCV000842191 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV000056852 SCV001101417 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000263951 SCV001140671 likely benign Alexander disease 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000056852 SCV002545943 benign not provided 2024-02-01 criteria provided, single submitter clinical testing GFAP: BS1, BS2
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056852 SCV000087965 not provided not provided no assertion provided not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000056852 SCV000801098 likely benign not provided 2017-06-08 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000056852 SCV002034923 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000056852 SCV002036573 likely benign not provided 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.