ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.54C>A (p.Leu18=)

dbSNP: rs1286345918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001485841 SCV001690289 likely benign Pyruvate dehydrogenase E2 deficiency 2022-07-20 criteria provided, single submitter clinical testing

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