Submissions for variant NM_001368067.1(LDB3):c.546T>C (p.Ser182=)

gnomAD frequency: 0.00316  dbSNP: rs71473272

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036849	SCV000060504	benign	not specified	2012-04-09	criteria provided, single submitter	clinical testing	Ser182Ser in exon 6 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and has been identified in 0.3% (22/6920) of European American chromosomes from a broad population by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs714 73272). Ser182Ser in exon 6 of LDB3 (rs71473272; allele frequency = 0.3%, 22/69 20) **
PreventionGenetics, part of Exact Sciences	RCV000036849	SCV000306369	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303793	SCV000365576	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365510	SCV000365577	uncertain significance	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000273098	SCV000365578	uncertain significance	Myofibrillar myopathy 4	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307366	SCV000365579	uncertain significance	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000273098	SCV000557543	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618735	SCV000735180	benign	Cardiovascular phenotype	2015-07-31	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001530015	SCV001472062	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001530015	SCV001838473	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001530015	SCV003916616	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LDB3: BP4, BP7, BS1, BS2
Cytogenetics- Mohapatra Lab, Banaras Hindu University	RCV001293331	SCV001481919	benign	Dilated cardiomyopathy 1C	2015-01-30	no assertion criteria provided	case-control
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530015	SCV001744503	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001530015	SCV001799902	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036849	SCV001923348	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036849	SCV001953946	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036849	SCV001975957	benign	not specified		no assertion criteria provided	clinical testing