ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.234A>G (p.Ala78=)

dbSNP: rs1288226865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501666 SCV001706480 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2020-11-16 criteria provided, single submitter clinical testing

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