ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.756T>C (p.Cys252=)

gnomAD frequency: 0.00060  dbSNP: rs141562044
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081457 SCV001035834 likely benign L-2-hydroxyglutaric aciduria 2023-08-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000891981 SCV001144395 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing

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