ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.221dup (p.Gly76fs)

dbSNP: rs2135181870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001526389 SCV001736717 likely pathogenic 3-methylglutaconic aciduria, type VIIB 2021-04-30 criteria provided, single submitter clinical testing

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