ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.342C>T (p.Ser114=)

gnomAD frequency: 0.00003  dbSNP: rs757785953
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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 RCV001404257 SCV001606155 likely benign Pyruvate dehydrogenase E3 deficiency 2024-04-15 criteria provided, single submitter clinical testing

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