Submissions for variant NM_006939.4(SOS2):c.2712A>G (p.Glu904=)

gnomAD frequency: 0.00020  dbSNP: rs143332839

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001029	SCV001158139	likely benign	Noonan syndrome 9	2023-08-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001193055	SCV001361619	benign	not specified	2019-08-24	criteria provided, single submitter	clinical testing
Invitae	RCV001001029	SCV001722707	benign	Noonan syndrome 9	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002434391	SCV002745018	likely benign	Cardiovascular phenotype	2022-04-11	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	RCV001001029	SCV002763027	benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003389855	SCV004134080	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SOS2: BP4, BP7