ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter)

dbSNP: rs2138863024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814683 SCV002061434 likely pathogenic Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 2021-07-19 criteria provided, single submitter clinical testing PVS1, PM2

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