ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) (rs200950385)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000899000 SCV001043241 likely benign 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2020-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001655643 SCV001871073 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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