ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4801G>A (p.Val1601Ile) (rs121918808)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735365 SCV000854519 likely benign Plagiocephaly; Global developmental delay; Visual impairment; Cortical visual impairment; Generalized hypotonia; Hypsarrhythmia; Postnatal microcephaly; Posterior plagiocephaly; Epileptic encephalopathy; Infantile spasms; Mild microcephaly criteria provided, single submitter clinical testing
Invitae RCV000542272 SCV000633866 likely benign Early infantile epileptic encephalopathy 2017-10-21 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059517 SCV000091048 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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