Submissions for variant NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr)

gnomAD frequency: 0.00051  dbSNP: rs147042608

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154532	SCV000204204	likely benign	not specified	2018-11-26	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx	RCV001530401	SCV000235984	likely benign	not provided	2020-04-20	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function
Invitae	RCV001438008	SCV001640875	likely benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399539	SCV002709919	likely benign	Cardiovascular phenotype	2018-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics	RCV002505169	SCV002797363	likely benign	Dilated cardiomyopathy 1C; Myofibrillar myopathy 4	2021-10-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965148	SCV004776839	likely benign	LDB3-related disorder	2020-07-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).