ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)

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Total submissions: 2
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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 RCV001004766 SCV001164246 uncertain significance Developmental and epileptic encephalopathy, 13 2017-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392730 SCV004133321 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing SCN8A: PP2, PP3

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