Submissions for variant NM_001368067.1(LDB3):c.504T>C (p.Asp168=)

gnomAD frequency: 0.06909  dbSNP: rs76615432

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036848	SCV000060503	benign	not specified	2011-06-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on its high frequency in control popu lations (18% in Blacks and 4% in Caucasians; LMM unpublished data).
PreventionGenetics, part of Exact Sciences	RCV000036848	SCV000306368	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403084	SCV000365572	likely benign	Myofibrillar myopathy 4	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304611	SCV000365573	benign	Dilated cardiomyopathy 1C	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000343074	SCV000365574	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000395286	SCV000365575	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000403084	SCV000557533	benign	Myofibrillar myopathy 4	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000036848	SCV000614000	benign	not specified	2017-07-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618498	SCV000735014	benign	Cardiovascular phenotype	2015-06-18	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.
GeneDx	RCV001707514	SCV001935343	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001707514	SCV005221821	likely benign	not provided		criteria provided, single submitter	not provided
Cytogenetics- Mohapatra Lab, Banaras Hindu University	RCV000304611	SCV001481918	benign	Dilated cardiomyopathy 1C	2014-09-11	no assertion criteria provided	case-control
Clinical Genetics, Academic Medical Center	RCV000036848	SCV001924150	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036848	SCV001956552	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001707514	SCV002035972	likely benign	not provided		no assertion criteria provided	clinical testing