ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1306T>C (p.Leu436=)

gnomAD frequency: 0.00009  dbSNP: rs376323449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499889 SCV000596957 likely benign not specified 2016-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000829040 SCV000970750 likely benign not provided 2018-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088729 SCV001010396 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-12-18 criteria provided, single submitter clinical testing

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