ClinVar Miner

Submissions for variant NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter)

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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 RCV003322244 SCV004026478 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing PVS1, PM2_SUP

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