ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.576G>T (p.Pro192=)

dbSNP: rs45543741
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
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 RCV000038761 SCV000062439 benign not specified 2007-12-13 criteria provided, single submitter clinical testing
Invitae RCV001080146 SCV000262096 benign Myofibrillar myopathy 4 2024-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588670 SCV000698756 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619480 SCV000736371 benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770145 SCV000901571 benign Cardiomyopathy 2016-04-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588670 SCV001471766 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000588670 SCV001892236 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038761 SCV001924522 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038761 SCV001958280 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038761 SCV001969178 benign not specified no assertion criteria provided 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.