ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)

gnomAD frequency: 0.00006  dbSNP: rs782325595
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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 RCV001437230 SCV001640082 likely benign Dystonia 12 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501543 SCV002801950 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 2021-09-01 criteria provided, single submitter clinical testing

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