ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)

dbSNP: rs782230953
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002260435 SCV002539070 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260436 SCV002539071 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260437 SCV002539072 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260434 SCV002539073 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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