ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.573C>G (p.Ser191=)

dbSNP: rs786204958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002054016 SCV002406103 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-12-04 criteria provided, single submitter clinical testing
RettBASE RCV000169970 SCV000222273 benign not specified 2014-05-09 no assertion criteria provided curation

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