ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.776G>A (p.Arg259His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003223911 SCV003919406 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22095942, 26069751)
Fulgent Genetics, Fulgent Genetics RCV005021864 SCV005647235 uncertain significance Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2024-04-05 criteria provided, single submitter clinical testing

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