ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.417C>T (p.Ser139=)

dbSNP: rs2137698040
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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 RCV002163827 SCV002479706 likely benign Pyruvate dehydrogenase E2 deficiency 2020-12-02 criteria provided, single submitter clinical testing

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