ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.783A>G (p.Arg261=)

dbSNP: rs1925958381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035160 SCV001198475 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-08-15 criteria provided, single submitter clinical testing

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