ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) (rs202153551)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475262 SCV000558806 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000133359 SCV000730441 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
RettBASE RCV000133359 SCV000188370 benign not specified 2014-05-09 no assertion criteria provided curation In exon 20, affecting only the transcript lowly expressed; found in multiple normal females in control population and normal family members

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