ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) (rs761848111)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000266509 SCV000330399 pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing The R1188X variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benignvariant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1188X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1188X as a pathogenic variant.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000578369 SCV000680115 pathogenic KBG syndrome 2017-07-13 no assertion criteria provided clinical testing

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