ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.145+5AT[6]

dbSNP: rs745969938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717113 SCV001945968 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073357 SCV002384249 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-10-13 criteria provided, single submitter clinical testing

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