Submissions for variant NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)

gnomAD frequency: 0.00079  dbSNP: rs147084515

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000868109	SCV000242734	benign	not provided	2019-04-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000189103	SCV000248818	uncertain significance	not specified	2015-04-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317154	SCV000850802	likely benign	Inborn genetic diseases	2018-06-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV001083577	SCV001009406	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000868109	SCV001145463	likely benign	not provided	2018-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985292	SCV004750725	likely benign	SCN2A-related disorder	2020-09-04	criteria provided, single submitter	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).