ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)

dbSNP: rs752918694
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090541 SCV001246146 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195875 SCV001366299 likely pathogenic KBG syndrome 2018-11-30 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Ambry Genetics RCV001266682 SCV001444859 pathogenic Inborn genetic diseases 2018-11-26 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127628 SCV003803760 pathogenic Developmental disorder 2020-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001090541 SCV004168933 pathogenic not provided 2023-04-26 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: 32124548, 34971082, 31703437)

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