Submissions for variant NM_006939.4(SOS2):c.702G>A (p.Leu234=)

gnomAD frequency: 0.00012  dbSNP: rs200208472

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877195	SCV001019895	likely benign	Noonan syndrome 9	2024-11-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001731965	SCV001983619	benign	not specified	2021-09-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372495	SCV002667073	likely benign	Cardiovascular phenotype	2024-05-30	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	RCV000877195	SCV002763118	benign	Noonan syndrome 9		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000877195	SCV004562321	likely benign	Noonan syndrome 9	2023-11-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004705857	SCV005212007	likely benign	not provided		criteria provided, single submitter	not provided