ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) (rs121918808)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542272 SCV000633866 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735365 SCV000854519 likely benign Plagiocephaly; Global developmental delay; Visual impairment; Cerebral visual impairment; Generalized hypotonia; Hypsarrhythmia; Secondary microcephaly; Posterior plagiocephaly; Epileptic encephalopathy; Infantile spasms; Mild microcephaly criteria provided, single submitter clinical testing
Mendelics RCV000059517 SCV001136021 likely benign Severe myoclonic epilepsy in infancy 2019-05-28 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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