ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.402T>C (p.Thr134=)

gnomAD frequency: 0.00002  dbSNP: rs886047693
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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 RCV002785478 SCV003025279 likely benign Pyruvate dehydrogenase E2 deficiency 2024-07-29 criteria provided, single submitter clinical testing

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