Submissions for variant NM_006939.4(SOS2):c.1446T>C (p.Ser482=)

gnomAD frequency: 0.00001  dbSNP: rs1468565433

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001458667	SCV001662492	likely benign	Noonan syndrome 9	2024-09-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002298951	SCV002598851	likely benign	not specified	2022-09-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002396078	SCV002700791	likely benign	Cardiovascular phenotype	2020-05-18	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	RCV001458667	SCV002763076	likely benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003394062	SCV004134087	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SOS2: BP4, BP7