ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.-130GACG[3]

dbSNP: rs879996553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402858 SCV000413479 uncertain significance Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307303 SCV000413480 uncertain significance Dystonia 12 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480169 SCV002788209 uncertain significance Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2022-05-02 criteria provided, single submitter clinical testing

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