ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2898C>T (p.Ala966=)

gnomAD frequency: 0.00001  dbSNP: rs774054004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594149 SCV001825490 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094843 SCV005828327 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536226 SCV004708259 likely benign SCN1A-related disorder 2021-06-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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