ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)

dbSNP: rs587784300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041816 SCV001205456 likely pathogenic Developmental and epileptic encephalopathy, 9 2021-08-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001257661 SCV001434472 likely pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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