Submissions for variant NM_001130438.3(SPTAN1):c.6708-7C>T

gnomAD frequency: 0.01980  dbSNP: rs16930539

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147653	SCV000171865	benign	not specified	2012-06-05	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.
PreventionGenetics, part of Exact Sciences	RCV000147653	SCV000306761	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462851	SCV000562986	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808389	SCV002056712	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004718037	SCV005317366	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000147653	SCV000195102	likely benign	not specified		no assertion criteria provided	clinical testing