Submissions for variant NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)

dbSNP: rs72758823

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147646	SCV000195095	uncertain significance	Developmental and epileptic encephalopathy, 5	2013-03-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000713521	SCV000521699	likely benign	not provided	2021-10-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088259	SCV000633796	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713521	SCV000844142	benign	not provided	2018-08-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312981	SCV000848852	likely benign	Inborn genetic diseases	2017-01-17	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.
Eurofins Ntd Llc (ga)	RCV000420949	SCV000860313	likely benign	not specified	2018-03-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000147646	SCV002056603	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737228	SCV005352468	likely benign	SPTAN1-related disorder	2024-06-28	no assertion criteria provided	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).