ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.864C>G (p.Thr288=)

gnomAD frequency: 0.00001  dbSNP: rs782236703
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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 RCV002101590 SCV002440562 likely benign Pyruvate dehydrogenase E2 deficiency 2024-06-03 criteria provided, single submitter clinical testing

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