Submissions for variant NM_152296.5(ATP1A3):c.1192+3G>A

gnomAD frequency: 0.00002  dbSNP: rs374542368

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000862078	SCV001002522	likely benign	Dystonia 12	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001655614	SCV001864439	benign	not provided	2021-01-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260072	SCV002539026	benign	Alternating hemiplegia of childhood 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260073	SCV002539027	benign	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260074	SCV002539028	benign	Developmental and epileptic encephalopathy 99	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000862078	SCV002539029	benign	Dystonia 12	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002538908	SCV003581869	likely benign	Inborn genetic diseases	2021-10-29	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.