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: 6
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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
Invitae RCV001516293 SCV001724556 benign L-2-hydroxyglutaric aciduria 2024-01-31 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
Mayo Clinic Laboratories, Mayo Clinic RCV000676578 SCV000802365 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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