ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1460G>A (p.Arg487His) (rs146265188)

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
Ambry Genetics RCV000619942 SCV000737210 likely benign Cardiovascular phenotype 2016-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000126608 SCV000051398 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000038729 SCV000170115 benign not specified 2013-11-08 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.
Invitae RCV000226392 SCV000289618 benign Myofibrillar myopathy, ZASP-related 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038729 SCV000062407 likely benign not specified 2016-03-01 criteria provided, single submitter clinical testing p.Arg487His in exon 12 of LDB3: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (63/10364) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP dbSNP rs146265188).

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.