ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.382G>A (p.Val128Ile)

gnomAD frequency: 0.00040  dbSNP: rs144677434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732667 SCV000860644 uncertain significance not provided 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001327355 SCV001518428 likely benign Pyruvate dehydrogenase E2 deficiency 2024-10-31 criteria provided, single submitter clinical testing

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