ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1291-10T>C

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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 RCV002591894 SCV003495676 likely benign Pyruvate dehydrogenase E2 deficiency 2022-09-07 criteria provided, single submitter clinical testing

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