Submissions for variant NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)

gnomAD frequency: 0.00009  dbSNP: rs373973880

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000713504	SCV000243074	likely benign	not provided	2020-02-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000699799	SCV000828526	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713504	SCV000844125	uncertain significance	not provided	2018-02-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713504	SCV001248841	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4
Genome-Nilou Lab	RCV001808480	SCV002056536	likely benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408850	SCV002715350	likely benign	Inborn genetic diseases	2017-08-28	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.