ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.480G>T (p.Leu160=)

dbSNP: rs750878642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480316 SCV001684632 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2020-08-20 criteria provided, single submitter clinical testing

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