ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)

dbSNP: rs2034272227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442825 SCV004169639 pathogenic not provided 2023-05-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34006472, 35174959)
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293721 SCV001482371 pathogenic KBG syndrome 2019-05-31 no assertion criteria provided research

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