ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)

gnomAD frequency: 0.00103  dbSNP: rs140678772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196247 SCV000251333 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086390 SCV001022109 likely benign Pyruvate dehydrogenase E2 deficiency 2023-11-17 criteria provided, single submitter clinical testing

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