ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)

gnomAD frequency: 0.00011  dbSNP: rs373448935
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000169961 SCV000226770 likely benign not specified 2016-04-28 criteria provided, single submitter clinical testing
Invitae RCV000539050 SCV000639473 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001706103 SCV001890676 likely benign not provided 2020-04-14 criteria provided, single submitter clinical testing
RettBASE RCV000169961 SCV000222262 benign not specified 2014-05-15 no assertion criteria provided curation

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