ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)

dbSNP: rs1064795497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493430 SCV000582346 pathogenic not provided 2019-05-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV002275041 SCV002562763 likely pathogenic KBG syndrome criteria provided, single submitter clinical testing KBG syndrome

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