ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10847T>C (p.Leu3616Pro)

dbSNP: rs1157491049
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766237 SCV002008069 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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