ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002461775 SCV002756775 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Molecular Genetics Lab, CHRU Brest RCV003883200 SCV004697608 likely pathogenic Deficiency of alpha-mannosidase criteria provided, single submitter clinical testing

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