ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.227-5C>G (rs1303795065)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522416 SCV000618857 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing The c.227-5C>G variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to damage the splice acceptor site in intron 4, and may cause abnormal gene splicing. The c.227-5C>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.227-5C>G as a variant of uncertain significance.

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