ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter)

dbSNP: rs2034483683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Autoinflammatory diseases unit, CHU de Montpellier RCV001261250 SCV001438086 pathogenic KBG syndrome 2015-10-28 no assertion criteria provided clinical testing

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