ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe RCV002286329 SCV002573788 likely pathogenic Opsoclonus-myoclonus syndrome no assertion criteria provided clinical testing

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