ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270384 SCV001450664 likely pathogenic KBG syndrome 2020-08-11 no assertion criteria provided clinical testing

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