ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1482T>C (p.Phe494=)

dbSNP: rs2032348683
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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 RCV001455787 SCV001659553 likely benign Pyruvate dehydrogenase E3 deficiency 2023-01-06 criteria provided, single submitter clinical testing

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