Submissions for variant NM_007078.3(LDB3):c.1035C>T (p.Ile345=)

gnomAD frequency: 0.00029  dbSNP: rs121908336

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000150924	SCV000170113	benign	not specified	2014-05-13	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150924	SCV000198560	likely benign	not specified	2014-11-06	criteria provided, single submitter	clinical testing	p.Ile345Ile 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 7/8600 of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS/; dbSNP rs121908336).
PreventionGenetics, part of Exact Sciences	RCV000150924	SCV000311688	benign	not specified		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000996134	SCV001150620	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	LDB3: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000996134	SCV001471444	likely benign	not provided	2020-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV001483220	SCV001687605	likely benign	Myofibrillar myopathy 4	2024-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150924	SCV002041719	benign	not specified	2021-11-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390285	SCV002698404	likely benign	Cardiovascular phenotype	2018-11-20	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000996134	SCV001742708	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150924	SCV001918799	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000996134	SCV001927248	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000996134	SCV001959938	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000996134	SCV001967026	likely benign	not provided		no assertion criteria provided	clinical testing