ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.900C>A (p.Thr300=)

gnomAD frequency: 0.00003  dbSNP: rs760071118
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
GeneDx RCV001312158 SCV000520360 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622160 SCV000736988 likely benign Cardiovascular phenotype 2016-06-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428842 SCV001572488 benign not specified 2021-04-15 criteria provided, single submitter clinical testing
Invitae RCV001491309 SCV001695895 likely benign Myofibrillar myopathy 4 2023-11-27 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.