ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2255_2270delinsTTTGGCTCACC (p.Pro752fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697678 SCV005198468 pathogenic not provided 2022-12-14 criteria provided, single submitter clinical testing

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