ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=)

gnomAD frequency: 0.00018  dbSNP: rs369101323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193283 SCV000247801 uncertain significance not specified 2014-12-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712164 SCV000842591 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088450 SCV001047142 benign L-2-hydroxyglutaric aciduria 2023-12-01 criteria provided, single submitter clinical testing

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