Submissions for variant NM_006939.4(SOS2):c.720C>T (p.Ile240=)

gnomAD frequency: 0.00006  dbSNP: rs373852615

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000600867	SCV000719420	benign	not specified	2017-07-28	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	RCV000873801	SCV001015862	benign	Noonan syndrome 9	2024-01-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000600867	SCV002548432	benign	not specified	2022-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377261	SCV002673862	likely benign	Cardiovascular phenotype	2022-04-19	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.
Genome-Nilou Lab	RCV000873801	SCV002763117	likely benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945487	SCV004770044	benign	SOS2-related condition	2019-08-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).