ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.891G>A (p.Glu297=)

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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 RCV003602848 SCV004509134 likely benign Pyruvate dehydrogenase E2 deficiency 2024-01-22 criteria provided, single submitter clinical testing

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