Submissions for variant NM_007078.3(LDB3):c.465C>T (p.Leu155=)

dbSNP: rs45516997

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000150917	SCV000170109	benign	not specified	2014-03-27	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150917	SCV000198541	benign	not specified	2014-12-23	criteria provided, single submitter	clinical testing	p.Leu155Leu in exon 4 of LDB3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.4% (255/64044) of E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs45516997).
Invitae	RCV000230615	SCV000289625	benign	Myofibrillar myopathy 4	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617229	SCV000736247	likely benign	Cardiovascular phenotype	2016-04-28	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	RCV000770142	SCV000901568	likely benign	Cardiomyopathy	2016-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000150917	SCV001476529	benign	not specified	2020-01-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150917	SCV002103834	benign	not specified	2022-02-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528851	SCV004127000	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ENSG00000289258: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528851	SCV004564964	benign	not provided	2023-11-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952660	SCV004771447	likely benign	LDB3-related disorder	2019-11-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528851	SCV001741283	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150917	SCV001922904	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528851	SCV001928295	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000150917	SCV001954786	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528851	SCV001965484	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001528851	SCV002036877	likely benign	not provided		no assertion criteria provided	clinical testing