ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1179T>C (p.Ile393=)

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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 RCV002900333 SCV003251910 likely benign Pyruvate dehydrogenase E3 deficiency 2023-03-27 criteria provided, single submitter clinical testing

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