Submissions for variant NM_007078.3(LDB3):c.352G>A (p.Val118Met)

gnomAD frequency: 0.00408  dbSNP: rs35507268

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038756	SCV000051556	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038756	SCV000062434	likely benign	not specified	2015-05-18	criteria provided, single submitter	clinical testing	p.Val118Met in exon 4 of LDB3: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (455/63354) of European chromos omes including 1 homozygous individual by the Exome Aggregation Consortium (http ://exac.broadinstitute.org/; dbSNP rs35507268).
GeneDx	RCV000038756	SCV000170108	benign	not specified	2013-02-06	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	RCV000232676	SCV000289623	benign	Myofibrillar myopathy 4	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891486	SCV000311693	benign	LDB3-related disorder	2019-10-25	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Eurofins Ntd Llc (ga)	RCV000038756	SCV000333572	likely benign	not specified	2015-12-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621725	SCV000736178	likely benign	Cardiovascular phenotype	2018-05-21	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770140	SCV000901566	benign	Cardiomyopathy	2016-08-17	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000770140	SCV000995321	benign	Cardiomyopathy	2019-02-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528350	SCV001159526	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528350	SCV002563021	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	LDB3: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV002496617	SCV002796783	benign	Dilated cardiomyopathy 1C; Myofibrillar myopathy 4	2021-10-25	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000038756	SCV000212126	likely benign	not specified	2015-03-02	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528350	SCV001739966	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001528350	SCV001797960	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038756	SCV001922589	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528350	SCV001929216	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038756	SCV001951905	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038756	SCV001964107	benign	not specified		no assertion criteria provided	clinical testing