ClinVar Miner

Submissions for variant NM_139343.2(BIN1):c.-389T>A

gnomAD frequency: 0.08511  dbSNP: rs56827597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336665 SCV000483877 likely benign Myopathy, centronuclear, 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618681 SCV001845226 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618681 SCV005262795 likely benign not provided criteria provided, single submitter not provided

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.