ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.838C>T (p.Arg280Cys)

dbSNP: rs879253957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235764 SCV000292947 likely pathogenic not provided 2023-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24863639, 32123317, 25614874, 33879512)
Revvity Omics, Revvity RCV000235764 SCV002022789 likely pathogenic not provided 2023-07-20 criteria provided, single submitter clinical testing
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002307469 SCV002600205 likely pathogenic Multiple system atrophy, cerebellar type 2022-05-20 criteria provided, single submitter clinical testing

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