Submissions for variant NM_007078.3(LDB3):c.1263G>A (p.Gly421=)

gnomAD frequency: 0.00369  dbSNP: rs139834701

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038720	SCV000062398	benign	not specified	2012-07-17	criteria provided, single submitter	clinical testing	Gly421Gly in Exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.9% (35/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs139834701).
Invitae	RCV000226780	SCV000289615	benign	Myofibrillar myopathy 4	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621718	SCV000735299	benign	Cardiovascular phenotype	2016-01-28	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528760	SCV001471479	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001528760	SCV001893036	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528760	SCV004127012	benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	LDB3: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003934930	SCV004748700	benign	LDB3-related disorder	2019-02-22	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528760	SCV001741070	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038720	SCV001919220	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528760	SCV001974351	likely benign	not provided		no assertion criteria provided	clinical testing