Submissions for variant NM_007078.3(LDB3):c.163G>A (p.Val55Ile)

gnomAD frequency: 0.00292  dbSNP: rs3740343

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038739	SCV000051557	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038739	SCV000062417	benign	not specified	2009-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344271	SCV000365548	likely benign	Myofibrillar myopathy 4	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382414	SCV000365549	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295142	SCV000365550	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348704	SCV000365551	likely benign	Dilated cardiomyopathy 1C	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000344271	SCV000557547	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038739	SCV000708001	likely benign	not specified	2017-05-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620161	SCV000735212	benign	Cardiovascular phenotype	2015-11-13	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Athena Diagnostics Inc	RCV000712210	SCV000842648	benign	not provided	2018-04-09	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770137	SCV000901563	benign	Cardiomyopathy	2016-02-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000712210	SCV001845192	benign	not provided	2018-11-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27553890)
Fulgent Genetics, Fulgent Genetics	RCV002504899	SCV002798540	benign	Dilated cardiomyopathy 1C; Myofibrillar myopathy 4	2021-10-20	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038739	SCV001922085	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038739	SCV001931195	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038739	SCV001952650	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038739	SCV001967514	benign	not specified		no assertion criteria provided	clinical testing