ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)

gnomAD frequency: 0.00003  dbSNP: rs587784295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147071 SCV000194419 uncertain significance Developmental and epileptic encephalopathy, 9 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000147071 SCV001688063 likely benign Developmental and epileptic encephalopathy, 9 2023-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998301 SCV005622517 likely benign not specified 2024-10-22 criteria provided, single submitter clinical testing

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