ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.268-19T>C

gnomAD frequency: 0.00001  dbSNP: rs373587265
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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 RCV001942213 SCV002228204 likely benign Pyruvate dehydrogenase E3 deficiency 2023-12-05 criteria provided, single submitter clinical testing

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