ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)

gnomAD frequency: 0.00001  dbSNP: rs782662538
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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 RCV001459404 SCV001663243 likely benign Dystonia 12 2022-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495659 SCV002798493 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 2021-10-07 criteria provided, single submitter clinical testing

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