ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.463+5G>A

dbSNP: rs886042303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090791 SCV001246513 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003313986 SCV004013998 pathogenic Developmental and epileptic encephalopathy, 2 2022-12-16 criteria provided, single submitter clinical testing PS3, PM2, PP3, PP5

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