ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7470+5G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285202 SCV002574949 pathogenic KBG syndrome 2022-09-16 criteria provided, single submitter clinical testing
Department of Clinical Pathology, School of Medicine, Fujita Health University RCV004558920 SCV004217913 likely benign EBV-positive nodal T- and NK-cell lymphoma no assertion criteria provided research

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