ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2724+7G>A

gnomAD frequency: 0.00264  dbSNP: rs55985817
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 RCV000151435 SCV000199462 benign not specified 2017-02-21 criteria provided, single submitter clinical testing 2724+7G>A in Intron 25 of MYO1A: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.5% (47/10406) of African chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs559858 17).
Eurofins Ntd Llc (ga) RCV000725857 SCV000339969 uncertain significance not provided 2016-03-18 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.