ClinVar Miner

Submissions for variant NM_004924.6(ACTN4):c.719T>C (p.Met240Thr)

dbSNP: rs1114167420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755729 SCV001996693 uncertain significance not provided 2019-11-14 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
Institute of Human Genetics, Cologne University RCV000490712 SCV000575767 uncertain significance Focal segmental glomerulosclerosis 1 no assertion criteria provided clinical testing

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