ClinVar Miner

Submissions for variant NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro)

dbSNP: rs1389877870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001843792 SCV002102932 likely pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1 2021-03-08 criteria provided, single submitter clinical testing

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