Submissions for variant NM_007078.3(LDB3):c.860-15C>T

dbSNP: rs727503126

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150922	SCV000198552	uncertain significance	not specified	2014-01-02	criteria provided, single submitter	clinical testing	The 860-15C>T variant in LDB3 has not been previously reported in individuals wi th cardiomyopathy or in large population studies (European American and African American cohorts). This variant is located in the 3' splice region. Computationa l tools do not predict an impact to splicing, though this information is not pre dictive enough to rule out pathogenicity. Additional information is needed to fu lly assess the clinical significance of this variant.
GeneDx	RCV000150922	SCV000529431	likely benign	not specified	2017-08-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055978	SCV002432218	likely benign	Myofibrillar myopathy 4	2023-05-22	criteria provided, single submitter	clinical testing