ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=)

dbSNP: rs777919249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719017 SCV000725646 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767664 SCV004579900 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-08-05 criteria provided, single submitter clinical testing

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