Submissions for variant NM_003036.4(SKI):c.1446G>A (p.Ala482=)

gnomAD frequency: 0.00570  dbSNP: rs114345135

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000178187	SCV000171640	benign	not specified	2014-05-29	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.
Eurofins Ntd Llc (ga)	RCV000178187	SCV000230202	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000999956	SCV000287834	benign	Shprintzen-Goldberg syndrome	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178187	SCV000309354	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310709	SCV000319431	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-12-15	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999956	SCV000605115	benign	Shprintzen-Goldberg syndrome	2023-11-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000999956	SCV002804740	likely benign	Shprintzen-Goldberg syndrome	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003311691	SCV004009712	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SKI: BP4, BP7, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000178187	SCV004029476	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003311691	SCV005285119	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000178187	SCV001808429	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000178187	SCV001952627	benign	not specified		no assertion criteria provided	clinical testing