ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1690+15C>T (rs781801012)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600785 SCV000713284 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing c.1690+15C>T in intron 14 of MYO7A: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 1/9842 Ashkenazi Jewish and 11/111576 European chromoso mes by the Genome Aggregation Database (gnomAD, ; dbSNP rs781801012).

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.