ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.2357C>G (p.Pro786Arg)

gnomAD frequency: 0.00068  dbSNP: rs114954140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001822044 SCV002064203 uncertain significance not provided 2022-01-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003976214 SCV004791425 likely benign MEGF8-related disorder 2023-06-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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