ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=)

gnomAD frequency: 0.00004  dbSNP: rs754371368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431114 SCV000514499 likely benign not specified 2016-05-25 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 RCV000636534 SCV000757973 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-09-21 criteria provided, single submitter clinical testing

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