ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551873 SCV001772468 pathogenic not provided 2021-05-20 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27620904)
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257006 SCV001433562 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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