ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.2732C>A (p.Thr911Lys)

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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, University Hospital Schleswig-Holstein RCV002291136 SCV002583399 likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2022-02-01 no assertion criteria provided clinical testing

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