ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2528C>A (p.Ala843Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466333 SCV002761261 likely pathogenic Alternating hemiplegia of childhood 2 2022-02-03 criteria provided, single submitter clinical testing

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