Submissions for variant NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly)

gnomAD frequency: 0.00001  dbSNP: rs181700296

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718904	SCV000720831	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852619	SCV000995323	likely benign	Cardiomyopathy; Long QT syndrome	2018-06-26	criteria provided, single submitter	clinical testing
Invitae	RCV001442974	SCV001645931	likely benign	Myofibrillar myopathy 4	2023-11-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003160090	SCV003859935	likely benign	Cardiovascular phenotype	2022-12-19	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	RCV003330825	SCV004038178	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing