ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7027+4A>T

gnomAD frequency: 0.00002  dbSNP: rs753538619
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001450580 SCV001654192 likely benign RYR1-related disorder 2025-01-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261365 SCV002541634 uncertain significance not provided 2021-09-13 criteria provided, single submitter clinical testing
GeneDx RCV002261365 SCV003921527 uncertain significance not provided 2023-01-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
CeGaT Center for Human Genetics Tuebingen RCV002261365 SCV004141605 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing RYR1: PM2

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.