Submissions for variant NM_003036.4(SKI):c.994A>G (p.Ile332Val)

gnomAD frequency: 0.00005  dbSNP: rs374264201

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001707795	SCV000724191	likely benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002064136	SCV002344942	benign	Shprintzen-Goldberg syndrome	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001707795	SCV002543842	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SKI: BS1, BS2
Ambry Genetics	RCV002385919	SCV002688852	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-05-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330828	SCV004038951	likely benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002064136	SCV004563424	likely benign	Shprintzen-Goldberg syndrome	2023-11-16	criteria provided, single submitter	clinical testing