Submissions for variant NM_001368067.1(LDB3):c.771G>A (p.Thr257=)

gnomAD frequency: 0.00040  dbSNP: rs144445130

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036853	SCV000060508	benign	not specified	2015-04-04	criteria provided, single submitter	clinical testing	p.Thr257Thr in exon 9 of LDB3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (52/16506) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs144445130).
GeneDx	RCV000036853	SCV000170111	benign	not specified	2014-04-21	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.
Invitae	RCV001084996	SCV000557542	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726618	SCV000701812	uncertain significance	not provided	2016-09-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617888	SCV000735772	likely benign	Cardiovascular phenotype	2017-02-10	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726618	SCV004127006	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	LDB3: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726618	SCV001743158	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036853	SCV001917481	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726618	SCV001930270	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000726618	SCV001958669	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726618	SCV001964798	likely benign	not provided		no assertion criteria provided	clinical testing