ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)

dbSNP: rs2151745705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665461 SCV001872938 pathogenic not provided 2021-07-26 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 (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV002275215 SCV002562757 pathogenic KBG syndrome criteria provided, single submitter clinical testing KBG syndrome
Revvity Omics, Revvity RCV002275215 SCV003817871 likely pathogenic KBG syndrome 2022-09-20 criteria provided, single submitter clinical testing

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