Submissions for variant NM_006950.3(SYN1):c.1110C>T (p.Cys370=)

gnomAD frequency: 0.00101  dbSNP: rs141925310

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189646	SCV000243292	benign	not specified	2014-08-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000189646	SCV000597328	likely benign	not specified	2015-12-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552417	SCV000639934	benign	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	2025-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426916	SCV002740978	benign	Inborn genetic diseases	2017-09-29	criteria provided, single submitter	clinical testing	This alteration is classified as 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.