ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4034C>A (p.Ala1345Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142256 SCV003807696 uncertain significance Hypokalemic periodic paralysis, type 1 2022-03-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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