ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp)

dbSNP: rs1600364712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000856659 SCV000999200 pathogenic Developmental and epileptic encephalopathy, 52 2020-10-09 no assertion criteria provided literature only

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