ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter)

dbSNP: rs1135401804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496122 SCV000586768 pathogenic KBG syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, moderate; myoclonia; leukemia

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