ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.336A>G (p.Leu112=)

dbSNP: rs59390116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079860 SCV001031388 benign L-2-hydroxyglutaric aciduria 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676576 SCV004134094 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing L2HGDH: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic RCV000676576 SCV000802363 likely benign not provided 2016-03-16 no assertion criteria provided clinical testing

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