Submissions for variant NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)

gnomAD frequency: 0.00011  dbSNP: rs544709718

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310889	SCV000319389	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-20	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474123	SCV000550377	likely benign	Shprintzen-Goldberg syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001711845	SCV000620001	likely benign	not provided	2019-12-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000474123	SCV000894750	uncertain significance	Shprintzen-Goldberg syndrome	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711845	SCV004127965	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SKI: BP4