Submissions for variant NM_007078.3(LDB3):c.609G>A (p.Ser203=)

gnomAD frequency: 0.01554  dbSNP: rs45531131

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038763	SCV000062441	benign	not specified	2008-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV000227191	SCV000289627	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621639	SCV000735946	benign	Cardiovascular phenotype	2015-09-09	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	RCV000770146	SCV000901572	benign	Cardiomyopathy	2016-04-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001596946	SCV001159522	benign	not provided	2023-08-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001596946	SCV001831205	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038763	SCV001923373	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038763	SCV001958193	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038763	SCV001964615	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038763	SCV001977986	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001596946	SCV002036419	likely benign	not provided		no assertion criteria provided	clinical testing