ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1692G>A (p.Thr564=)

gnomAD frequency: 0.00009  dbSNP: rs185907405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705451 SCV000721282 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520672 SCV003523811 likely benign Pyruvate dehydrogenase E2 deficiency 2023-11-16 criteria provided, single submitter clinical testing

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