Submissions for variant NM_007078.3(LDB3):c.690-4A>G

gnomAD frequency: 0.00427  dbSNP: rs45529531

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030120	SCV000052775	likely benign	Cardiomyopathy	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154455	SCV000204124	benign	not specified	2013-05-30	criteria provided, single submitter	clinical testing	690-4A>G in intron 6 of LDB3: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence and has been identified in 0.7% (30/4406) of African American chromosomes from a broad p opulation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S; dbSNP rs45529531).
PreventionGenetics, part of Exact Sciences	RCV000154455	SCV000306370	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000154455	SCV000341435	benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405139	SCV000365592	uncertain significance	Myofibrillar myopathy 4	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000288174	SCV000365593	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347861	SCV000365594	uncertain significance	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000393351	SCV000365595	uncertain significance	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000405139	SCV000557557	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000154455	SCV000614001	benign	not specified	2017-05-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619569	SCV000735020	benign	Cardiovascular phenotype	2015-04-21	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000030120	SCV000900655	benign	Cardiomyopathy	2017-08-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529636	SCV001471507	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001529636	SCV001939650	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529636	SCV004127003	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ENSG00000289258: BS2; LDB3: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529636	SCV001743428	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154455	SCV001923332	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000154455	SCV001930598	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000154455	SCV001956547	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529636	SCV002035349	likely benign	not provided		no assertion criteria provided	clinical testing