ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) (rs373795773)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431367 SCV000516725 likely benign not specified 2017-02-08 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.
Athena Diagnostics Inc RCV000710169 SCV000614413 benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000641144 SCV000762766 likely benign Early infantile epileptic encephalopathy 9 2017-08-15 criteria provided, single submitter clinical testing

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