ClinVar Miner

Submissions for variant NM_014516.4(CNOT3):c.1094C>A (p.Ser365Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003322242 SCV004026474 likely pathogenic not provided 2022-04-14 criteria provided, single submitter clinical testing PVS1, PM2_SUP

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