ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004515764 SCV005016474 pathogenic Andersen Tawil syndrome 2023-11-15 criteria provided, single submitter clinical testing

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