ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)

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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 RCV003333279 SCV004040653 uncertain significance Seizures, benign familial infantile, 5 2023-03-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333277 SCV004040773 uncertain significance Cognitive impairment with or without cerebellar ataxia 2023-03-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333278 SCV004040976 uncertain significance Developmental and epileptic encephalopathy, 13 2023-03-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333280 SCV004041114 uncertain significance Myoclonus, familial, 2 2023-03-08 criteria provided, single submitter clinical testing

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