ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr)

dbSNP: rs1942878547
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253721 SCV001429573 uncertain significance Developmental and epileptic encephalopathy, 13 2017-11-20 criteria provided, single submitter clinical testing

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