ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.41G>A (p.Arg14Gln)

dbSNP: rs776223095
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733732 SCV001984573 uncertain significance L-2-hydroxyglutaric aciduria 2020-02-18 criteria provided, single submitter clinical testing

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