Submissions for variant NM_007078.3(LDB3):c.897-14T>C

gnomAD frequency: 0.00014  dbSNP: rs763081924

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214569	SCV000270355	likely benign	not specified	2015-03-30	criteria provided, single submitter	clinical testing	c.897-14T>C in intron 6 of LDB3: This variant is not expected to have clinical s ignificance because a T>C change at this position does not diverge from the spli ce consensus sequence and is therefore unlikely to impact splicing. It has also been identified in 9/64996 of European chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org).
GeneDx	RCV000214569	SCV000515520	likely benign	not specified	2016-12-06	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	RCV002054948	SCV002393980	likely benign	Myofibrillar myopathy 4	2023-11-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000214569	SCV003928320	benign	not specified	2023-04-26	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000214569	SCV001920626	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726050	SCV001963390	likely benign	not provided		no assertion criteria provided	clinical testing