Submissions for variant NM_000702.4(ATP1A2):c.2116-14C>T

gnomAD frequency: 0.00003  dbSNP: rs748188822

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000609633	SCV000715477	likely benign	not specified	2017-01-31	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	RCV002062895	SCV002407441	benign	Familial hemiplegic migraine	2024-01-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260018	SCV002539803	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260020	SCV002539804	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260019	SCV002539805	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260017	SCV002539808	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing