ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.760G>T (p.Glu254Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797408 SCV005416949 likely pathogenic 3-methylglutaconic aciduria, type VIIB; Neutropenia, severe congenital, 9, autosomal dominant; 3-methylglutaconic aciduria, type VIIA criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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