ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.77A>C (p.Lys26Thr)

dbSNP: rs755403368
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752838 SCV001995743 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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