Submissions for variant NM_007078.3(LDB3):c.1903G>A (p.Val635Ile)

gnomAD frequency: 0.01846  dbSNP: rs45618633

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038744	SCV000051560	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038744	SCV000062422	benign	not specified	2008-04-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000038744	SCV000170116	benign	not specified	2011-07-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000038744	SCV000306362	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000471539	SCV000557540	benign	Myofibrillar myopathy 4	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621020	SCV000735442	benign	Cardiovascular phenotype	2015-05-27	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	RCV000030117	SCV000901732	benign	Cardiomyopathy	2016-04-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811210	SCV001159683	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030117	SCV000052772	benign	Cardiomyopathy	2013-12-31	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038744	SCV001925645	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038744	SCV001930135	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038744	SCV001951839	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038744	SCV001965623	benign	not specified		no assertion criteria provided	clinical testing