Submissions for variant NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=)

gnomAD frequency: 0.00068  dbSNP: rs6706924

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724385	SCV000228472	uncertain significance	not provided	2015-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000189104	SCV000242735	benign	not specified	2014-09-19	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081126	SCV000639638	benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345605	SCV002651074	likely benign	Inborn genetic diseases	2017-12-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724385	SCV004147146	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	SCN2A: BS1, BS2