ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5748C>T (p.Phe1916=)

gnomAD frequency: 0.00004  dbSNP: rs756514910
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615072 SCV000731832 likely benign not specified 2017-09-14 criteria provided, single submitter clinical testing p.Phe1916Phe in exon 42 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 12/18504 of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org/; dbSNP rs756514910).
Invitae RCV001445437 SCV001648468 likely benign not provided 2024-01-19 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.