ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.37A>C (p.Thr13Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005037258 SCV005659874 uncertain significance Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2024-04-23 criteria provided, single submitter clinical testing

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