ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) (rs200728466)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606264 SCV000734798 likely benign Early infantile epileptic encephalopathy 9 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188330 SCV000342998 benign not specified 2016-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000188330 SCV000241942 likely benign not specified 2016-05-05 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.

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