ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)

gnomAD frequency: 0.58246  dbSNP: rs2275591
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146250 SCV000193497 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000676578 SCV000842594 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516293 SCV001724556 benign L-2-hydroxyglutaric aciduria 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000676578 SCV001837538 benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516293 SCV001981204 benign L-2-hydroxyglutaric aciduria 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676578 SCV005212021 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676578 SCV000802365 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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