ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1335C>T (p.Tyr445=)

gnomAD frequency: 0.00017  dbSNP: rs587781024
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000156759 SCV000170114 benign not specified 2013-10-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000156759 SCV000206480 likely benign not specified 2014-08-21 criteria provided, single submitter clinical testing Tyr445Tyr in exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Eurofins NTD LLC (GA) RCV000156759 SCV000334323 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Invitae RCV000457257 SCV000557561 benign Myofibrillar myopathy 4 2021-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621803 SCV000736616 benign Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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.