ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.615-165G>A (rs1592380699)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850511 SCV000992714 likely pathogenic Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 2018-10-12 criteria provided, single submitter clinical testing

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