ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1287T>G (p.Arg429=)

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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 RCV002928607 SCV003267216 likely benign Pyruvate dehydrogenase E2 deficiency 2022-08-12 criteria provided, single submitter clinical testing

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