Submissions for variant NM_007078.3(LDB3):c.1074C>T (p.Ala358=)

gnomAD frequency: 0.02688  dbSNP: rs45459491

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030115	SCV000052770	benign	Cardiomyopathy	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038718	SCV000062396	benign	not specified	2008-06-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038718	SCV000311690	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000457081	SCV000557544	benign	Myofibrillar myopathy 4	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618888	SCV000735137	benign	Cardiovascular phenotype	2015-07-15	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.
Athena Diagnostics	RCV000712209	SCV000842647	benign	not provided	2018-03-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000712209	SCV001828460	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University	RCV001293333	SCV001481921	uncertain significance	Dilated cardiomyopathy 1C	2014-08-21	no assertion criteria provided	case-control
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000712209	SCV001743588	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712209	SCV001799463	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038718	SCV001920288	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038718	SCV001928522	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038718	SCV001955178	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038718	SCV001969157	benign	not specified		no assertion criteria provided	clinical testing