ClinVar Miner

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

dbSNP: 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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