Submissions for variant NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)

gnomAD frequency: 0.00019  dbSNP: rs367776636

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189539	SCV000243182	likely benign	not specified	2017-10-10	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	RCV000636383	SCV000757822	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317652	SCV000849910	likely benign	Inborn genetic diseases	2022-09-06	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.
Genome-Nilou Lab	RCV001808525	SCV002056730	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001808525	SCV002795828	likely benign	Developmental and epileptic encephalopathy, 5	2022-04-30	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003488443	SCV004237723	uncertain significance	not provided	2023-11-05	criteria provided, single submitter	clinical testing