ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) (rs796052837)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720401 SCV000851278 pathogenic History of neurodevelopmental disorder 2016-10-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Mendelics RCV000990909 SCV001141962 pathogenic Early infantile epileptic encephalopathy 9 2019-05-28 criteria provided, single submitter clinical testing

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