ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)

dbSNP: rs1555230924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623014 SCV000740860 pathogenic Inborn genetic diseases 2015-04-17 criteria provided, single submitter clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003992347 SCV004809327 not provided Complex neurodevelopmental disorder no assertion provided literature only

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