ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.1246_1248dup (p.Glu416_Ser417insGlu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004782212 SCV005395889 uncertain significance Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2023-12-19 criteria provided, single submitter clinical testing

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