ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3138dup (p.Thr1047fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV003412536 SCV004102643 likely pathogenic Seizure 2023-05-22 criteria provided, single submitter clinical testing

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