Submissions for variant NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val)

gnomAD frequency: 0.00138  dbSNP: rs139397227

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188917	SCV000242547	benign	not specified	2016-12-01	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	RCV001450564	SCV001654175	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2022-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362988	SCV002661435	likely benign	Inborn genetic diseases	2018-07-25	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 Diagnostics Laboratory, University Medical Center Utrecht	RCV000534453	SCV001928814	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000534453	SCV001962880	likely benign	not provided		no assertion criteria provided	clinical testing