ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)

dbSNP: rs1597459649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995492 SCV001149680 pathogenic KBG syndrome 2018-02-02 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268876 SCV001448096 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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