Submissions for variant NM_000702.4(ATP1A2):c.495+65T>C

gnomAD frequency: 0.96234  dbSNP: rs2820582

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000829902	SCV000971634	benign	not provided	2018-06-14	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.
Genome-Nilou Lab	RCV001554192	SCV001775409	benign	Alternating hemiplegia of childhood 1	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260050	SCV002539934	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260049	SCV002539935	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260048	SCV002539936	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV004594152	SCV005087276	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 94% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 87. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000829902	SCV005282976	benign	not provided		criteria provided, single submitter	not provided