ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)

dbSNP: rs796053219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004566611 SCV005049814 likely pathogenic Cognitive impairment with or without cerebellar ataxia 2024-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566612 SCV005049851 likely pathogenic Developmental and epileptic encephalopathy, 13 2024-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566613 SCV005049907 likely pathogenic Seizures, benign familial infantile, 5 2024-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566614 SCV005049914 likely pathogenic Myoclonus, familial, 2 2024-03-16 criteria provided, single submitter clinical testing

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