Submissions for variant NM_007078.3(LDB3):c.1506G>A (p.Pro502=)

gnomAD frequency: 0.00941  dbSNP: rs45579241

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038735	SCV000062413	benign	not specified	2012-02-23	criteria provided, single submitter	clinical testing	Pro502Pro in exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it has been identified in 2.7% (102/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs45579241).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000477463	SCV000557535	benign	Myofibrillar myopathy 4	2021-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620864	SCV000735659	benign	Cardiovascular phenotype	2015-08-04	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769288	SCV000900666	benign	Cardiomyopathy	2017-09-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529064	SCV001157542	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001529064	SCV001861085	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001529064	SCV005317612	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529064	SCV001741887	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038735	SCV001921328	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038735	SCV001967489	benign	not specified		no assertion criteria provided	clinical testing