ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.759A>G (p.Ala253=)

gnomAD frequency: 0.00001  dbSNP: rs914123181
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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 RCV001434589 SCV001637399 likely benign Pyruvate dehydrogenase E2 deficiency 2018-09-05 criteria provided, single submitter clinical testing

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