ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.144G>A (p.Val48=)

dbSNP: rs367745211
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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 RCV000642191 SCV000763845 likely benign Pyruvate dehydrogenase E2 deficiency 2019-12-31 criteria provided, single submitter clinical testing

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