Submissions for variant NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)

gnomAD frequency: 0.00960  dbSNP: rs45592139

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038754	SCV000051558	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038754	SCV000062432	benign	not specified	2009-01-19	criteria provided, single submitter	clinical testing
Invitae	RCV000229889	SCV000289622	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038754	SCV000306364	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396879	SCV000365552	likely benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000229889	SCV000365553	likely benign	Myofibrillar myopathy 4	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338341	SCV000365554	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396844	SCV000365555	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000038754	SCV000613998	benign	not specified	2016-08-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621945	SCV000735116	benign	Cardiovascular phenotype	2016-03-15	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528687	SCV001158917	benign	not provided	2023-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001528687	SCV001840803	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25163546)
CeGaT Center for Human Genetics Tuebingen	RCV001528687	SCV004126999	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ENSG00000289258: BS1, BS2; LDB3: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030119	SCV000052774	benign	Cardiomyopathy	2013-02-18	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528687	SCV001740854	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001528687	SCV001799414	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038754	SCV001917846	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038754	SCV001954953	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038754	SCV001969403	benign	not specified		no assertion criteria provided	clinical testing