ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1115del (p.Met372fs) (rs786200869)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000001675 SCV000595496 pathogenic L-2-hydroxyglutaric aciduria 2017-06-07 criteria provided, single submitter clinical testing
OMIM RCV000001675 SCV000021831 pathogenic L-2-hydroxyglutaric aciduria 2004-11-15 no assertion criteria provided literature only

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