Submissions for variant NM_003036.4(SKI):c.1935G>T (p.Arg645=)

gnomAD frequency: 0.00003  dbSNP: rs751933078

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000540734	SCV000637290	likely benign	Shprintzen-Goldberg syndrome	2019-11-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000613884	SCV000716408	likely benign	not specified	2017-02-27	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.
Ambry Genetics	RCV003278889	SCV004003167	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-03-16	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.
PreventionGenetics, part of Exact Sciences	RCV003962502	SCV004787501	likely benign	SKI-related condition	2019-04-24	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).