ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV002284144 SCV002573453 pathogenic Developmental and epileptic encephalopathy, 1 2016-09-12 criteria provided, single submitter clinical testing

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