ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.404-1G>C

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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 RCV003484989 SCV004232373 likely pathogenic West syndrome 2024-01-11 criteria provided, single submitter clinical testing

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