Submissions for variant NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)

gnomAD frequency: 0.00177  dbSNP: rs146199765

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552938	SCV000645411	benign	Dystonia 12	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001683573	SCV001898118	benign	not provided	2019-05-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260008	SCV002539970	benign	Alternating hemiplegia of childhood 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260009	SCV002539971	benign	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260010	SCV002539972	benign	Developmental and epileptic encephalopathy 99	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000552938	SCV002539974	benign	Dystonia 12	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001683573	SCV004143844	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ATP1A3: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004553235	SCV004743103	benign	ATP1A3-related disorder	2019-09-23	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics	RCV001683573	SCV005307504	benign	not provided		criteria provided, single submitter	not provided