Submissions for variant NM_006939.4(SOS2):c.3774G>A (p.Ser1258=)

gnomAD frequency: 0.00001  dbSNP: rs747521589

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001452884	SCV001656561	likely benign	Noonan syndrome 9	2024-12-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001532902	SCV001748693	likely benign	not specified	2021-07-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001452884	SCV002762974	likely benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003372906	SCV004096331	likely benign	Cardiovascular phenotype	2023-09-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV003884788	SCV004703332	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SOS2: BP4, BP7