ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3423A>G (p.Pro1141=)

gnomAD frequency: 0.00008  dbSNP: rs376102810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838109 SCV000979973 likely benign not provided 2018-03-16 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.
Invitae RCV001078527 SCV001004973 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000838109 SCV004184244 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SCN8A: BP4, BP7

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