Submissions for variant NM_007078.3(LDB3):c.993G>A (p.Ala331=)

gnomAD frequency: 0.00095  dbSNP: rs140347820

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038775	SCV000062453	likely benign	not specified	2015-07-28	criteria provided, single submitter	clinical testing	p.Ala331Ala in exon 10 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (150/65132) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs140347820).
Invitae	RCV001084670	SCV000289631	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038775	SCV000311695	likely benign	not specified	2016-02-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618353	SCV000737003	likely benign	Cardiovascular phenotype	2016-10-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Athena Diagnostics	RCV000712211	SCV000842649	benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769282	SCV000900660	likely benign	Cardiomyopathy	2017-01-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712211	SCV001473629	benign	not provided	2022-04-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000712211	SCV001858161	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038775	SCV002570835	benign	not specified	2022-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712211	SCV004701538	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LDB3: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000712211	SCV001744661	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038775	SCV001923096	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712211	SCV001930573	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000712211	SCV001954693	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712211	SCV001965118	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712211	SCV002037056	likely benign	not provided		no assertion criteria provided	clinical testing