Submissions for variant NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)

dbSNP: rs750838146

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001573584	SCV000250685	benign	not provided	2019-02-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25519456)
Invitae	RCV000230294	SCV000287839	likely benign	Shprintzen-Goldberg syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311059	SCV000320452	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-10-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573584	SCV001799688	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573584	SCV001809274	likely benign	not provided		no assertion criteria provided	clinical testing