ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.339T>A (p.Cys113Ter)

dbSNP: rs2030444679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814291 SCV001755653 likely pathogenic Abnormality of metabolism/homeostasis 2021-07-10 criteria provided, single submitter clinical testing
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001249463 SCV001244929 uncertain significance L-2-hydroxyglutaric aciduria no assertion criteria provided clinical testing

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