ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2382C>T (p.Phe794=)

gnomAD frequency: 0.00001  dbSNP: rs970183279
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
Invitae RCV000982538 SCV001130554 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449680 SCV001652929 likely benign not specified 2020-05-27 criteria provided, single submitter clinical testing The p.Phe794Phe variant in MYO7A is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.02% (3/12904) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). . ACMG/AMP Criteria applied: BP4, BP7, PM2_Supporting.
GeneDx RCV000982538 SCV004040127 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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.