ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1944-20G>T

gnomAD frequency: 0.00216  dbSNP: rs200665663
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001640846 SCV001856523 benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072969 SCV002407092 benign Dystonia 12 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260236 SCV002540037 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260237 SCV002540038 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260238 SCV002540039 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002072969 SCV002540041 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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