ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)

dbSNP: rs1925264314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230657 SCV001403144 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-08-31 criteria provided, single submitter clinical testing
Pediatrics, MediClubGeorgia RCV002249819 SCV002515275 likely pathogenic Developmental and epileptic encephalopathy, 2 2022-05-16 no assertion criteria provided clinical testing

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