ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=)

gnomAD frequency: 0.00024  dbSNP: rs375278138
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532024 SCV001747400 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001532024 SCV002352092 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501866 SCV002812606 likely benign Fraser syndrome 1 2022-03-25 criteria provided, single submitter 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.