ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)

gnomAD frequency: 0.00001  dbSNP: rs387907013
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000023778 SCV001482024 pathogenic L-2-hydroxyglutaric aciduria criteria provided, single submitter clinical testing ACMG classificatio: class 5 (PVS1, PM2, PP5)
OMIM RCV000023778 SCV000045069 pathogenic L-2-hydroxyglutaric aciduria 2011-09-21 no assertion criteria provided literature only

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