Submissions for variant NM_005633.4(SOS1):c.984C>T (p.Gly328=)

gnomAD frequency: 0.00001  dbSNP: rs778223456

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718512	SCV001943956	likely benign	not provided	2020-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002073368	SCV002464216	likely benign	RASopathy	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386505	SCV002691144	likely benign	Cardiovascular phenotype	2021-12-30	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	RCV002468289	SCV002763473	likely benign	Noonan syndrome 4		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002468288	SCV002763475	likely benign	Fibromatosis, gingival, 1		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496041	SCV002804352	likely benign	Fibromatosis, gingival, 1; Noonan syndrome 4	2021-07-27	criteria provided, single submitter	clinical testing