Submissions for variant NM_000702.4(ATP1A2):c.2284+18G>T

gnomAD frequency: 0.00092  dbSNP: rs369835706

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123765	SCV000167108	benign	not specified	2014-03-12	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.
Invitae	RCV002055425	SCV002410224	benign	Familial hemiplegic migraine	2024-01-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259672	SCV002539822	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259674	SCV002539823	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259673	SCV002539824	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259671	SCV002539825	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing