ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3835dup (p.Ser1279fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia RCV003388951 SCV003927987 pathogenic KBG syndrome 2022-07-27 criteria provided, single submitter clinical testing ACMG/AMP: PVS1,PS2,PM2
GeneDx RCV004794631 SCV005415261 pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing Frameshift 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: 35861666)

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