Submissions for variant NM_006939.4(SOS2):c.2916T>C (p.Tyr972=)

gnomAD frequency: 0.00001  dbSNP: rs979918396

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002157316	SCV002332919	likely benign	Noonan syndrome 9	2022-06-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002441255	SCV002748713	likely benign	Cardiovascular phenotype	2021-06-23	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.
Genome-Nilou Lab	RCV002157316	SCV002763020	likely benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003893119	SCV004709205	likely benign	SOS2-related disorder	2020-11-02	no assertion criteria provided	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).