Submissions for variant NM_007078.3(LDB3):c.2016C>T (p.Cys672=)

gnomAD frequency: 0.00288  dbSNP: rs45578640

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038748	SCV000062426	benign	not specified	2010-07-23	criteria provided, single submitter	clinical testing	Cys672Cys in exon 15 of the LDB3 gene: This variant does not not alter an amino acid residue and is not located near a splice junction. Although some base chang es that do not result in amino acid changes can be associated with disease, this variant occurs in ~1% of the general population; rs45578640) and is therefore m ost likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081462	SCV000289621	benign	Myofibrillar myopathy 4	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038748	SCV000336655	benign	not specified	2015-10-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590797	SCV000698754	benign	not provided	2016-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619718	SCV000735052	likely benign	Cardiovascular phenotype	2015-05-04	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000590797	SCV001472673	benign	not provided	2022-03-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000590797	SCV001747547	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LDB3: BP4, BP7, BS2
GeneDx	RCV000590797	SCV001758958	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000590797	SCV005221833	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003891485	SCV000306363	benign	LDB3-related disorder	2019-08-08	no assertion criteria provided	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	RCV000590797	SCV001742127	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038748	SCV001923424	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000590797	SCV001932494	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038748	SCV001958917	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038748	SCV001967100	benign	not specified		no assertion criteria provided	clinical testing