ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly)

dbSNP: rs2138735599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001822986 SCV002072491 likely pathogenic Developmental and epileptic encephalopathy, 13 no assertion criteria provided clinical testing

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