ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.593-4G>A (rs876657534)

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, Partners HealthCare Personalized Medicine RCV000218298 SCV000270553 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing c.593-4G>A in intron 6 of MYO7A: This variant is not expected to have clinical significance because the -4 position in the 3' splice site is not an invariant position within the splice consensus sequence and computational splice models do not predict an impact to splicing. In addition, many mammals have an adenine (A ) at this nucleotide position.
Counsyl RCV000672267 SCV000797358 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2018-01-23 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.