Submissions for variant NM_007078.3(LDB3):c.273G>A (p.Thr91=)

gnomAD frequency: 0.00010  dbSNP: rs45613039

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038753	SCV000062431	benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing	p.Thr91Thr in exon 3 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 2.0% (330/16496) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs45613039).
GeneDx	RCV000845362	SCV000523511	benign	not provided	2018-04-10	criteria provided, single submitter	clinical testing
Invitae	RCV001084139	SCV000557545	benign	Myofibrillar myopathy 4	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618355	SCV000736170	benign	Cardiovascular phenotype	2017-12-12	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845362	SCV000987416	likely benign	not provided		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038753	SCV002511765	benign	not specified	2022-04-09	criteria provided, single submitter	clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University	RCV001293329	SCV001481916	benign	Dilated cardiomyopathy 1C	2014-11-11	no assertion criteria provided	case-control
Clinical Genetics, Academic Medical Center	RCV000038753	SCV001924289	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000845362	SCV001965161	likely benign	not provided		no assertion criteria provided	clinical testing