ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) (rs1573973548)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986877 SCV001136025 pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing

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