Submissions for variant NM_003036.4(SKI):c.360C>T (p.Arg120=)

gnomAD frequency: 0.00006  dbSNP: rs375024753

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000200253	SCV000250666	benign	not specified	2015-05-06	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.
Invitae	RCV000461600	SCV000560926	likely benign	Shprintzen-Goldberg syndrome	2024-01-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000461600	SCV000605119	likely benign	Shprintzen-Goldberg syndrome	2019-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315614	SCV000739628	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-04-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000200253	SCV004038950	benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937725	SCV004753864	likely benign	SKI-related condition	2019-10-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).