ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1065-13_1196+207del

dbSNP: rs1889265791
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250242 SCV001424445 pathogenic L-2-hydroxyglutaric aciduria criteria provided, single submitter clinical testing

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