ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3]

dbSNP: rs759572835
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 RCV000215847 SCV000270550 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing c.3924+31_3924+46dup in intron 30 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus seq uence and splice prediction tools do not suggest an impact to the canonical spli ce site. It has been identified in 5/19858 European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org), though the ability of these studies to accurately detect indels may be limited.
Invitae RCV001449399 SCV001652515 likely benign not provided 2023-12-27 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.