Submissions for variant NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)

gnomAD frequency: 0.01671  dbSNP: rs34423165

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038768	SCV000051559	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038768	SCV000062446	benign	not specified	2012-02-07	criteria provided, single submitter	clinical testing	Lys251Arg in exon 7 of LDB3: This variant is classified as benign based on its h igh frequency in the general population (dbSNP rs34423165; NHLBI Exome Sequencin g Project, http://evs.gs.washington.edu/EVS).
GeneDx	RCV000038768	SCV000235981	benign	not specified	2012-08-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205724	SCV000262097	benign	Myofibrillar myopathy 4	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354520	SCV000365600	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259558	SCV000365601	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319367	SCV000365602	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000205724	SCV000365603	likely benign	Myofibrillar myopathy 4	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513959	SCV000610451	likely benign	not provided	2017-04-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618811	SCV000735303	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000030121	SCV000900656	likely benign	Cardiomyopathy	2016-04-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000513959	SCV001159398	benign	not provided	2024-11-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490416	SCV002800207	benign	Dilated cardiomyopathy 1C; Myofibrillar myopathy 4	2022-04-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000513959	SCV005221822	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030121	SCV000052776	benign	Cardiomyopathy	2013-02-18	no assertion criteria provided	clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University	RCV001293338	SCV001481926	likely pathogenic	Dilated cardiomyopathy 1C	2014-08-19	no assertion criteria provided	case-control
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000513959	SCV001744452	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000513959	SCV001798405	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038768	SCV001919505	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038768	SCV001930938	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038768	SCV001954764	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038768	SCV001966822	benign	not specified		no assertion criteria provided	clinical testing