Submissions for variant NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)

gnomAD frequency: 0.00003  dbSNP: rs372331627

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171998	SCV000054757	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038741	SCV000062419	likely benign	not specified	2015-06-11	criteria provided, single submitter	clinical testing	p.Ile558Val in exon 9 of LDB3: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (40/12734) South Asian chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs372331627).
GeneDx	RCV000171998	SCV000236009	benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25179549, 24503780, 26112015, 27896284, 20474083, 25351510, 27633507, 27884173, 30315573, 31127727)
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852622	SCV000995326	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2019-03-18	criteria provided, single submitter	clinical testing
Mendelics	RCV000988404	SCV001138109	benign	Myofibrillar myopathy 4	2023-08-22	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170179	SCV001332729	benign	Cardiomyopathy	2017-11-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988404	SCV002372738	benign	Myofibrillar myopathy 4	2023-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399380	SCV002708526	likely benign	Cardiovascular phenotype	2020-09-03	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.
CeGaT Center for Human Genetics Tuebingen	RCV000171998	SCV004127016	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	LDB3: BS1
Clinical Genetics, Academic Medical Center	RCV000171998	SCV001925714	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000171998	SCV001953608	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000171998	SCV001965907	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000171998	SCV002034882	uncertain significance	not provided		no assertion criteria provided	clinical testing