Submissions for variant NM_007078.3(LDB3):c.867C>T (p.Asp289=)

gnomAD frequency: 0.00004  dbSNP: rs397517227

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038771	SCV000062449	likely benign	not specified	2012-10-17	criteria provided, single submitter	clinical testing	Asp289Asp in exon 8 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Asp289Asp in exon 8 of LDB3 (allele frequency = n/a)
Invitae	RCV000862068	SCV001002507	benign	Myofibrillar myopathy 4	2023-08-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444487	SCV002683366	likely benign	Cardiovascular phenotype	2022-08-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701581	SCV001933027	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701581	SCV001966624	likely benign	not provided		no assertion criteria provided	clinical testing