Submissions for variant NM_003036.4(SKI):c.294C>T (p.Thr98=)

gnomAD frequency: 0.01188  dbSNP: rs115746142

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000198732	SCV000309361	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311058	SCV000319836	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-11	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.
Invitae	RCV001001457	SCV000560924	benign	Shprintzen-Goldberg syndrome	2024-01-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001457	SCV001158705	benign	Shprintzen-Goldberg syndrome	2021-11-09	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000198732	SCV004029465	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing