ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289422 SCV002580965 likely pathogenic KBG syndrome 2022-08-18 criteria provided, single submitter clinical testing

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