ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2418+18C>T

gnomAD frequency: 0.00003  dbSNP: rs369674143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002102738 SCV002381577 likely benign Dystonia 12 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499921 SCV002813751 likely benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2021-07-12 criteria provided, single submitter clinical testing

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