ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter)

dbSNP: rs2151761457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809045 SCV002059390 likely pathogenic KBG syndrome 2019-02-25 criteria provided, single submitter clinical testing

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