ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) (rs886041791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622829 SCV000742139 pathogenic Inborn genetic diseases 2017-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000389598 SCV000330550 pathogenic not provided 2016-05-19 criteria provided, single submitter clinical testing The R733X pathogenic 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 cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R733X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R733X as a pathogenic variant
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000455520 SCV000540910 likely pathogenic KBG syndrome 2017-03-09 criteria provided, single submitter research

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