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

dbSNP: rs72758823

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128270	SCV000171862	benign	not specified	2013-07-15	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.
Genetic Services Laboratory, University of Chicago	RCV000128270	SCV000195096	likely benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726217	SCV000342960	uncertain significance	not provided	2016-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV001083179	SCV000758003	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312947	SCV000847466	likely benign	Inborn genetic diseases	2016-09-01	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.
Genome-Nilou Lab	RCV001808386	SCV002056604	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726217	SCV002063261	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726217	SCV001742905	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726217	SCV001928203	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726217	SCV002038033	likely benign	not provided		no assertion criteria provided	clinical testing