ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.408+14T>C

gnomAD frequency: 0.00215  dbSNP: rs77736285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329378 SCV001520810 uncertain significance L-2-hydroxyglutaric aciduria 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001329378 SCV001728446 benign L-2-hydroxyglutaric aciduria 2024-01-25 criteria provided, single submitter clinical testing

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