ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=)

gnomAD frequency: 0.00001  dbSNP: rs142079769
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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 RCV000528282 SCV000639466 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2017-07-19 criteria provided, single submitter clinical testing

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