ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.714C>T (p.Ala238=)

gnomAD frequency: 0.00013  dbSNP: rs727503125
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000150921 SCV000198550 likely benign not specified 2013-12-20 criteria provided, single submitter clinical testing Ala238Ala in exon 7 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ala238Ala in exon 7 of LDB3 (allele frequency = n/a)
GeneDx RCV001719934 SCV000524612 likely benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Invitae RCV000537866 SCV000638677 likely benign Myofibrillar myopathy 4 2019-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150921 SCV001363755 benign not specified 2019-07-12 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.