ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.729A>G (p.Glu243=)

dbSNP: rs2032247071
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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 RCV002164456 SCV002478000 likely benign Pyruvate dehydrogenase E3 deficiency 2023-11-28 criteria provided, single submitter clinical testing

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