ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs) (rs1135401815)

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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 RCV000496121 SCV000586785 pathogenic KBG syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, mild; short stature; hypermetropia; dysmorphism; short digits; cyphoscoliosis; carpus bones fusion in the daughter; father affected

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