Submissions for variant NM_007078.3(LDB3):c.1956C>T (p.Asp652=)

gnomAD frequency: 0.00013  dbSNP: rs139213290

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150931	SCV000198580	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Asp652Asp in exon 14 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (4/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs139213290). Asp652Asp in ex on 14 of LDB3 (rs139213290; allele frequency = 0.1%, 4/7020) **
GeneDx	RCV000150931	SCV000513476	benign	not specified	2015-05-27	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.
Invitae	RCV000458699	SCV000557564	likely benign	Myofibrillar myopathy 4	2023-12-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170184	SCV001332734	benign	Cardiomyopathy	2018-09-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701687	SCV002062930	likely benign	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415639	SCV002722064	likely benign	Cardiovascular phenotype	2019-03-01	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150931	SCV003801040	benign	not specified	2023-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150931	SCV001921633	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701687	SCV001930370	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701687	SCV001956247	likely benign	not provided		no assertion criteria provided	clinical testing