ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4832C>T

gnomAD frequency: 0.00001  dbSNP: rs546887989
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 RCV000156753 SCV000206474 likely benign not specified 2014-08-26 criteria provided, single submitter clinical testing 345-5C>T in intron 5 of LDB3: This variant is not expected to have clinical sign ificance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing.
Invitae RCV003764981 SCV004654050 likely benign Myofibrillar myopathy 4 2023-11-12 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.