Submissions for variant NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)

gnomAD frequency: 0.00009  dbSNP: rs367546924

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127922	SCV000171508	benign	not specified	2014-02-25	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.
Eurofins Ntd Llc (ga)	RCV000726581	SCV000701638	uncertain significance	not provided	2016-10-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089292	SCV000762236	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2023-12-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726581	SCV000892589	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	SCN2A: BP4, BP7
Ambry Genetics	RCV002453457	SCV002613284	likely benign	Inborn genetic diseases	2018-10-16	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.
Athena Diagnostics	RCV000127922	SCV005620894	benign	not specified	2024-01-03	criteria provided, single submitter	clinical testing