ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.510G>A (p.Glu170=)

gnomAD frequency: 0.00106  dbSNP: rs151305613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712165 SCV000842593 benign not provided 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV002067004 SCV002487820 benign L-2-hydroxyglutaric aciduria 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907970 SCV004727094 likely benign L2HGDH-related disorder 2019-03-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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