Submissions for variant NM_006939.4(SOS2):c.2640A>G (p.Ser880=)

gnomAD frequency: 0.00031  dbSNP: rs146730136

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000652832	SCV000774704	likely benign	Noonan syndrome 9	2024-01-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001358709	SCV001554534	benign	not specified	2021-03-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813539	SCV002060667	likely benign	Noonan syndrome and Noonan-related syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002458147	SCV002740032	likely benign	Cardiovascular phenotype	2022-02-20	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	RCV000652832	SCV002763031	benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003389825	SCV004134081	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SOS2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003953201	SCV004776050	likely benign	SOS2-related disorder	2020-04-13	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).