Submissions for variant NM_001040142.2(SCN2A):c.4255-31A>G

gnomAD frequency: 0.20300  dbSNP: rs1864885

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000829846	SCV000971578	benign	not provided	2018-06-14	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.
Genome-Nilou Lab	RCV001807351	SCV002054533	benign	Developmental and epileptic encephalopathy, 11	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807352	SCV002054534	benign	Episodic ataxia, type 9	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807350	SCV002054535	benign	Seizures, benign familial infantile, 3	2021-07-15	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV004594147	SCV005087684	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 44% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 41. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000829846	SCV005239637	benign	not provided		criteria provided, single submitter	not provided