Submissions for variant NM_005633.4(SOS1):c.87+9C>T

gnomAD frequency: 0.00001  dbSNP: rs397517179

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038574	SCV000062252	likely benign	not specified	2010-10-27	criteria provided, single submitter	clinical testing	This variant has not been previously reported in the literature or public databa ses, or been observed in our laboratory. However, it is not expected to be clini cally significant because it is not located in the conserved region of the splic ing consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869195	SCV001010603	benign	RASopathy	2025-01-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813361	SCV002060659	likely benign	Noonan syndrome and Noonan-related syndrome	2018-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467558	SCV002763618	benign	Noonan syndrome 4		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467557	SCV002763619	benign	Fibromatosis, gingival, 1		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003964859	SCV004780824	likely benign	SOS1-related disorder	2020-05-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).