Submissions for variant NM_000702.4(ATP1A2):c.631-16A>G

dbSNP: rs571618030

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000602112	SCV000718851	likely benign	not specified	2017-04-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002063198	SCV002409365	benign	Familial hemiplegic migraine	2024-10-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260026	SCV002539715	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260028	SCV002539716	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260027	SCV002539717	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260025	SCV002539719	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing