ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)

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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 RCV003333512 SCV004041163 likely pathogenic Developmental and epileptic encephalopathy, 13 2023-03-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333513 SCV004041268 likely pathogenic Seizures, benign familial infantile, 5 2023-03-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333514 SCV004041349 likely pathogenic Myoclonus, familial, 2 2023-03-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333511 SCV004041444 likely pathogenic Cognitive impairment with or without cerebellar ataxia 2023-03-17 criteria provided, single submitter clinical testing

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