ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1495_1496dup (p.Pro500fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149132 SCV003836686 pathogenic Developmental and epileptic encephalopathy, 4 2020-05-28 criteria provided, single submitter clinical testing

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