ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.624T>G (p.Asp208Glu)

gnomAD frequency: 0.00389  dbSNP: rs35224402
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
Eurofins Ntd Llc (ga) RCV000342096 SCV000341909 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000635390 SCV000534348 benign not provided 2020-07-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24796702, 27858732, 33094863)
Invitae RCV001080472 SCV000756800 benign GNE myopathy; Sialuria 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000635390 SCV001144075 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252085 SCV002523572 benign See cases 2020-02-25 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV001080472 SCV002801032 likely benign GNE myopathy; Sialuria 2021-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000635390 SCV004157741 benign not provided 2022-10-01 criteria provided, single submitter clinical testing GNE: BS1, BS2

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.